Anesthesia for Genetic Metabolic and Dysmorphic Syndromes of Childhood 3/e

  • 저   자 : Baum
  • 역   자 :
  • 출판사 : LWW
  • ISBN(13) : 9781451192797
  • 발행일 : 2015  /   3판   /   496 페이지
  • 상품코드 : 25173
  • 적립금: 4,860
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Using a quick-reference, encyclopedic format, Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood,
3rd Edition, presents the anesthetic implications of a plethora of distinct syndromes, with up-to-date information,
complete and current bibliographies, and more than 140 clinical photographs. You’ll find practical information on
common and uncommon manifestations in the major anatomic areas, as well as what you need to know for safe and effective
anesthesia of both children and adults.

Key Features:

Presents each syndrome in an easy-to-follow format: name, synonym(s), and common and uncommon manifestations in each
organ system, followed by anesthetic considerations, including which syndromes have no anesthetic implications.
Lists syndromes and synonyms alphabetically, and cross-references synonyms for quick look-up.
Incorporates an overview of the pathology and relevant clinical findings for each syndrome, and highlights
considerations in perioperative management.
Features a helpful glossary at the beginning of the book, as well as diagrams that review pertinent biochemical
pathways.
Now with the print edition, enjoy the bundled interactive eBook edition, offering tablet, smartphone, or online access
to: Complete content with enhanced navigation
Powerful search tools and smart navigation cross-links that pull results from content in the book, your notes, and even
the web
Cross-linked pages, references, and more for easy navigation
Highlighting tool for easier reference of key content throughout the text
Ability to take and share notes with friends and colleagues
Quick reference tabbing to save your favorite content for future use



1.Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood
Cover
Title Page
Copyright Information
Dedication
Preface to the Third Edition
From the Preface to the Second Edition
Introduction: How to Use This Book
Glossary
Syndromes Starting with Numerals
Syndromes Starting with Numerals
2-Methylacetoacetyl-CoA thiolase deficiency
3β-Hydroxysteroid dehydrogenase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Ketothiolase deficiency
3MC syndrome
3-MCCD
3-Methylcrotonyl-CoA carboxylase I deficiency
Bibliography
3-Methylcrotonylglycinuria I
3-Oxothiolase deficiency
4-Hydroxyphenylpyruvic acid dioxygenase (oxidase) deficiency
4p-syndrome
Bibliography
5α-Reductase deficiency
Bibliography
5p-Syndrome
5, -Methylene tetrahydrofolate reductase deficiency
Bibliography
9p-Syndrome
Bibliography
qter Deletion syndrome
Bibliography
11β-Hydroxylase deficiency
11β-Hydroxysteroid dehydrogenase deficiency
Bibliography
11β-Ketoreductase deficiency
11q-Syndrome
Bibliography
13q-Syndrome
Bibliography
17α-Hydroxylase deficiency
17β-Hydroxysteroid dehydrogenase deficiency
17-Ketosteroid reductase deficiency
Bibliography
17,20-Desmolase (lyase) deficiency
Bibliography
17p-Syndrome
18-Hydroxylase deficiency
Bibliography
18p-Syndrome
Bibliography
18q-Syndrome
Bibliography
21-Hydroxylase deficiency
22q11.2 Deletion syndrome
4p-syndrome.
11q-syndrome.
Fig. 1: 18q-syndrome.
Fig. 2: 18q-syndrome.
더보기

A
A
AADC deficiency
Aarskog syndrome
Bibliography
Aarskog-Scott syndrome
Aase syndrome
Aase-Smith syndrome I
Bibliography
Aase-Smith syndrome II
Abetalipoproteinemia
Bibliography
Acanthocytosis
Acetyl-CoA acetyltransferase 1 deficiency
Achondrogenesis
Bibliography
Achondroplasia
Bibliography
Acid maltase deficiency
Acroosteolysis syndrome
Acrocallosal syndrome
Bibliography
Acrocephalopolysyndactyly type II
Acrocephalosyndactyly type I
Acrocephalosyndactyly type II
Acrocephalosyndactyly type III
Acrocephalosyndactyly type V
Acrodysostosis I and II
Bibliography
Acromesomelic dwarfism
Acromesomelic dysplasia
Bibliography
ADA deficiency
Adams-Oliver syndrome
Bibliography
Addison-Schilder disease
Adenosine deaminase deficiency
Bibliography
Adrenogenital syndrome
Adrenoleukodystrophy
Bibliography
Adrenomyeloneuropathy
AEC syndrome
Bibliography
Aglossia-adactyly syndrome
Aicardi syndrome
Bibliography
Alagille syndrome
Bibliography
Albers-Schönberg disease
Albinism
Bibliography
Albright hereditary osteodystrophy
Albright syndrome
Alcaptonuria
Alcohol
Aldehyde oxidase deficiency
Alexander disease
Bibliography
Alkaptonuria
Bibliography
Alpers disease
Bibliography
Alpha1-antitrypsin deficiency
Bibliography
Alpha-galactosidase A deficiency
Alpha-galactosidase B deficiency
Alpha-1,4-glucan:alpha-1,4-glucan-6-alpha-glucosyltransferase deficiency
Alpha-1,4-glucosidase deficiency
Alpha-N-acetylgalactosaminidase deficiency
Alpha-mannosidosis
Alpha-methylacetoacetic aciduria
Alpha-thalassemia/mental retardation syndrome
Alport syndrome
Bibliography
Alström syndrome
Bibliography
Amniotic band sequence
Bibliography
Amylo-1,6-glucosidase deficiency
Amyoplasia congenita disruptive syndrome
Andersen disease
Andersen syndrome
Andersen-Tawil syndrome
Anderson disease
Bibliography
Anderson-Fabry disease
Angelman syndrome
Bibliography
Aniridia-Wilms tumor association
Bibliography
Antithrombin III deficiency
Bibliography
Antley-Bixler syndrome
Bibliography
Apert syndrome
Bibliography
Apert-Crouzon syndrome
Aplasia cutis congenita
Apparent mineralocorticoid excess, syndrome of
ARC syndrome
Bibliography
Arginase deficiency
Bibliography
Argininemia
Argininosuccinic acid lyase deficiency
Bibliography
Argininosuccinic acid synthetase deficiency
Bibliography
Argininosuccinic aciduria
Arima syndrome
Bibliography
Arnold-Chiari malformation
Bibliography
Aromatic l-amino acid decarboxylase deficiency
Bibliography
Arrhythmogenic right ventricular dysplasia
Arteriohepatic dysplasia
Arthrodentoosteo dysplasia
Arthrogryposis
Bibliography
Arthrogryposis multiplex congenita (AMC)
Asperger syndrome
Asphyxiating thoracic dystrophy
Asplenia
Bibliography
Asymmetric crying facies
Bibliography
Ataxia-telangiectasia
Bibliography
ATP synthetase (ATPase) deficiency
ATR-X syndrome
Bibliography
Autism spectrum disorder
Bibliography
Autistic disorder
Autonomic neuropathy with insensitivity to pain
198.Axenfeld syndrome
199.Axenfeld-Rieger syndrome
200.Bibliography
201.Figure 1: Achondroplasia.
202.Figure 2: Achondroplasia.
203.Figure 1: Adams-Oliver syndrome.
204.Figure 2: Adams-Oliver syndrome.
205.Figure 3: Adams-Oliver syndrome.
206.Alagille syndrome.
207.Figure 1: Alcaptonuria.
208.Figure 2: Alcaptonuria.
209.Alström syndrome.
2 .Amniotic band sequence.
211.Angelman syndrome.
212.Antley-Bixler syndrome.
213.Figure 1: Apert syndrome.
214.Figure 2: Apert syndrome.
215.Figure 3: Apert syndrome.
216.Figure 4: Apert syndrome.
217.Figure 1: Arthrogryposis.
218.Figure 2: Arthrogryposis.
219.Figure 3: Arthrogryposis.
220.Axenfeld-Rieger syndrome.
221.B
222.B
223.Baller-Gerold syndrome
224.Bibliography
225.Bannayan-Riley-Ruvalcaba syndrome
226.Bannayan-Zonana syndrome
227.Baraitser-Burn syndrome
228.Bardet-Biedl syndrome
229.Bibliography
230.Bare lymphocyte syndrome
231.Barth syndrome
232.Bibliography
233.Bartter syndrome
234.Bibliography
235.Basal cell nevus syndrome
236.Bibliography
237.Batten disease
238.Beals contractural arachnodactyly syndrome
239.Beals syndrome
240.Bibliography
241.Bean syndrome
242.Beare-Stevenson syndrome
243.Bibliography
244.Becker disease
245.Bibliography
246.Becker muscular dystrophy
247.Bibliography
248.Becker-type myotonia congenita
249.Beckwith-Wiedemann syndrome
250.Bibliography
251.Béguez César syndrome
252.Berardinelli lipodystrophy
253.Berardinelli-Seip syndrome
254.Bernard-Soulier syndrome
255.Bibliography
256.Bernheimer-Seitelberger disease
257.Beta-glucuronidase deficiency
258.Beta-ketothiolase deficiency
259.Bibliography
260.Biotinidase deficiency
261.Bibliography
262.Blackfan-Diamond syndrome
263.Blepharophimosis syndrome
264.Bibliography
265.Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES syndrome)
266.Bloch-Sulzberger syndrome
267.Bloom syndrome
268.Bibliography
269.Blount disease
270.Bibliography
271.Blue diaper syndrome
272.Bibliography
273.Blue rubber bleb nevus syndrome
274.Bibliography
275.BOFS
276.Bohring-Opitz syndrome
277.BOR syndrome
278.Börjeson syndrome
279.Börjeson-Forssman-Lehmann syndrome
280.Bibliography
281.BPES syndrome
282.Brachmann-de Lange syndrome
283.Brancher deficiency
284.Bibliography
285.Branchiooculofacial syndrome
286.Bibliography
287.Branchiootorenal syndrome
288.Brugada syndrome
289.Bibliography
290.Basal cell nevus syndrome.
291.Beckwith-Wiedemann syndrome.
292.Bloom syndrome.
293.C
294.C
295.C syndrome
296.Bibliography
297.C1 esterase inhibitor deficiency
298.Caffey disease
299.Bibliography
300.Campomelic dwarfism
301.Campomelic dysplasia
302.Bibliography
303.Camurati-Engelmann syndrome
304.Bibliography
305.Canavan disease
306.Bibliography
307.Cantrell’s pentalogy
308.Carbamoyl phosphate synthetase deficiency
309.Carbamoyl phosphate synthetase deficiency
3 .Bibliography
311.Cardiac-limb syndrome
312.Cardiofaciocutaneous syndrome
313.Bibliography
314.Carnevale syndrome
315.Carney complex
316.Bibliography
317.Carnitine palmitoyltransferase deficiency
318.Bibliography
319.Carpenter syndrome
320.Bibliography
321.Cartilage-hair hypoplasia syndrome
322.Bibliography
323.Cat eye syndrome
324.Bibliography
325.Catel-Manzke syndrome
326.Bibliography
327.Caudal regression syndrome
328.Bibliography
329.Cayler syndrome
330.Central core disease
331.Bibliography
332.Central hypoventilation syndrome
333.Centronuclear myopathy
334.Cerebral gigantism
335.Cerebrocostomandibular syndrome
336.Bibliography
337.Cerebrohepatorenal syndrome
338.Cerebrooculofacioskeletal syndrome
339.Bibliography
340.Cerebrooculohepatorenal syndrome
341.Cerebroside lipidosis
342.Ceroid lipofuscinosis
343.Cervicooculoacoustic syndrome
344.CFC syndrome
345.Charcot-Marie-Tooth disease
346.Bibliography
347.CHARGE syndrome
348.Bibliography
349.Chédiak-Higashi syndrome
350.Bibliography
351.Chiari II malformation
352.CHILD syndrome
353.Bibliography
354.Cholesterol ester storage disease
355.Chondrodysplasia punctata—autosomal recessive type
356.Bibliography
357.Chondrodysplasia punctata—X-linked dominant and autosomal dominant types
358.Bibliography
359.Chondrodystrophica myotonia
360.Chondroectodermal dysplasia
361.Christmas disease
362.Chronic granulomatous disease
363.Bibliography
364.Citrullinemia
365.Citrullinuria
366.Cleidocranial dysostosis
367.Cleidocranial dysplasia
368.Bibliography
369.Clouston syndrome
370.Bibliography
371.Cloverleaf skull
372.CLOVES syndrome
373.Bibliography
374.Cobalamin (A-G) deficiency
375.Bibliography
376.Cocaine
377.Cockayne syndrome
378.Bibliography
379.Coenzyme Q-cytochrome c reductase deficiency
380.Coffin-Lowry syndrome
381.Bibliography
382.Coffin-Siris syndrome
383.Bibliography
384.COFS syndrome
385.Cohen syndrome
386.Bibliography
387.Collodion membranes
388.Complex I deficiency
389.Bibliography
390.Complex II deficiency
391.Bibliography
392.Complex III deficiency
393.Bibliography
394.Complex IV deficiency
395.Bibliography
396.Complex V deficiency
397.Bibliography
398.Complex glycerol kinase deficiency
399.Congenital absence of the rods and cones
400.Congenital adrenal hyperplasia
401.Bibliography
402.Congenital cutis laxa
403.Congenital insensitivity to pain with anhidrosis
404.Bibliography
405.Congenital methemoglobinemia
406.Congenital myotonic dystrophy
407.Congenital spherocytosis
408.Conradi-Hünermann syndrome
409.Cooley’s anemia
4 .Cori disease
411.Cornelia de Lange syndrome
412.Bibliography
413.Corticosterone methyl oxidase I deficiency
414.Costello syndrome
415.Bibliography
416.Coumarin
417.Cowden syndrome
418.Bibliography
419.Craniocarpotarsal dysplasia
420.Craniodiaphyseal dysplasia
421.Bibliography
422.Craniofacial dysostosis
423.Craniofrontonasal dysplasia
424.Bibliography
425.Craniometaphyseal dysplasia
426.Bibliography
427.Cranioorofacial digital syndrome
428.Craniosynostosis-radial aplasia syndrome
429.Cri du chat syndrome
430.Bibliography
431.Crigler-Najjar syndrome
432.Bibliography
433.Crouzon syndrome
434.Bibliography
435.Cryptophthalmos syndrome
436.Cryptophthalmos-syndactyly syndrome
437.Cutis gyrata syndrome of Beare-Stevenson
438.Cutis laxa
439.Bibliography
440.Cyclic neutropenia
441.Bibliography
442.Cystic fibrosis
443.Bibliography
444.Cystinosis
445.Bibliography
446.Cystinuria
447.Bibliography
448.Cytochrome c oxidase deficiency
449.C syndrome.
450.Cat eye syndrome.
451.CHARGE syndrome.
452.CHILD syndrome.
453.Chondrodysplasia punctata—autosomal recessive type.
454.Figure 1: Cleidocranial dysplasia.
455.Figure 2: Cleidocranial dysplasia.
456.Clouston syndrome.
457.Figure 1: CLOVES syndrome.
458.Figure 2: CLOVES syndrome.
459.Cockayne syndrome.
460.Complex II deficiency.
461.Congenital adrenal hyperplasia.
462.Cornelia de Lange syndrome.
463.Figure 1: Costello syndrome.
464.Figure 2: Costello syndrome.
465.Craniodiaphyseal dysplasia.
466.Cri du chat syndrome.
467.Figure 1: Crouzon syndrome.
468.Figure 2: Crouzon syndrome.
469.Cystic fibrosis.
470.D
471.D
472.Dandy-Walker Malformation
473.Bibliography
474.De Barsy syndrome
475.Debrancher deficiency
476.Bibliography
477.Degos disease
478.Dejerine-Sottas syndrome
479.Bibliography
480.de Lange syndrome
481.Delleman syndrome
482.Bibliography
483.de Morsier syndrome
484.Denys-Drash syndrome
485.de Sanctis-Cacchione syndrome
486.Bibliography
487.Desmolase deficiency
488.de Toni-Debre-Fanconi syndrome
489.Diamond-Blackfan anemia
490.Bibliography
491.Diaphyseal aclasis
492.Diastrophic dysplasia
493.Bibliography
494.Diastrophic nanism
495.Dibasic amino aciduria type 2
496.DIDMOAD syndrome
497.Bibliography
498.DiGeorge syndrome
499.Bibliography
500.Dilantin
501.Disseminated lipogranulomatosis
502.Distal arthrogryposis
503.Distal arthrogryposis, type 2A
504.Distal arthrogryposis, type 7
505.Distichiasis-lymphedema syndrome
506.DK-phocomelia syndrome
507.Bibliography
508.Donohue syndrome
509.Down syndrome
5 .Bibliography
511.Drash syndrome
512.Bibliography
513.Dubin-Johnson syndrome
514.Bibliography
515.Dubowitz syndrome
516.Bibliography
517.Duchenne muscular dystrophy
518.Bibliography
519.Dutch-Kentucky syndrome
520.Bibliography
521.Dyggve-Melchior-Clausen syndrome
522.Bibliography
523.Dyschondrosteosis
524.Dysencephalia splanchnocystica
525.Dyskeratosis congenital
526.Bibliography
527.Diastrophic dysplasia.
528.Figure 1: Down syndrome.
529.Figure 2: Down syndrome.
530.Duchenne muscular dystrophy.
531.E
532.E
533.Eagle-Barrett syndrome
534.Eastman-Bixler syndrome
535.Ectodermal dysplasia
536.Ectrodactyly-ectodermal dysplasia-clefting syndrome
537.Edwards syndrome
538.EEC syndrome
539.Bibliography
540.Ehlers-Danlos syndrome
541.Bibliography
542.Elastin arteriopathy
543.Electron transfer flavoprotein (ETF) deficiency
544.Electron transfer flavoprotein: Ubiquinone oxidoreductase (ETF-QO) deficiency
545.Ellis-van Creveld syndrome
546.Bibliography
547.Emery-Dreifuss muscular dystrophy
548.Bibliography
549.Engelmann-Camurati syndrome
550.Eosinophilic granuloma
551.Epidermal nevus syndrome
552.Epidermolysis bullosa
553.Bibliography
554.Epstein syndrome
555.Escobar syndrome
556.Essential fructosuria
557.Bibliography
558.Eulenburg disease
559.Exstrophy of the bladder sequence
560.Bibliography
561.Exstrophy of the cloaca sequence
562.Bibliography
563.EEC syndrome.
564.Table 1: Types of Ehlers-Danlos syndrome
565.Figure 1: Ehlers-Danlos syndrome.
566.Figure 2: Ehlers-Danlos syndrome.
567.Ellis-van Creveld syndrome.
568.Figure 1: Epidermolysis bullosa.
569.Table 2: Types of epidermolysis bullosa
570.Figure 2: Epidermolysis bullosa.
571.Exstrophy of the cloaca.
572.F
573.F
574.Fabry disease
575.Bibliography
576.Facioaudiosymphalangism syndrome
577.Facioauriculovertebral syndrome
578.Faciocardiorenal syndrome
579.Bibliography
580.Faciodigitogenital syndrome
581.Faciogenitopopliteal syndrome
582.Facioscapulohumeral muscular dystrophy
583.Bibliography
584.Factor V Leiden mutation
585.Bibliography
586.Fahr disease
587.Bibliography
588.Fairbank type multiple epiphyseal dysplasia
589.Familial adenomatous polyposis
590.Familial dysautonomia
591.Bibliography
592.Familial hyperkalemic periodic paralysis
593.Familial hypokalemic periodic paralysis
594.Familial hyperlysinemia
595.Bibliography
596.Familial Mediterranean fever
597.Bibliography
598.Familial periodic paralysis
599.Bibliography
600.Fanconi anemia
601.Bibliography
602.Fanconi syndrome
603.Bibliography
604.Farber disease
605.Bibliography
606.Fazio-Londe disease
607.Bibliography
608.Fechtner syndrome
609.Bibliography
6 .Femoral hypoplasia-facial syndrome
611.Femoral hypoplasia-unusual facies syndrome
612.Bibliography
613.Femur-fibula-ulna syndrome
614.Bibliography
615.Fetal akinesia deformation sequence (FADS)
616.Fetal akinesia/hypokinesia sequence
617.Bibliography
618.Fetal alcohol syndrome
619.Bibliography
620.Fetal cocaine effect
621.Bibliography
622.Fetal coumarin syndrome
623.Fetal Dilantin syndrome
624.Fetal face syndrome
625.Fetal hydantoin syndrome
626.Bibliography
627.Fetal hyperphenylalaninemia syndrome
628.Fetal retinoid syndrome
629.Fetal valproate syndrome
630.Bibliography
631.Fetal warfarin syndrome
632.Bibliography
633.FG syndrome
634.Bibliography
635.Fibrodysplasia ossificans progressiva syndrome
636.Bibliography
637.Floating-Harbor syndrome
638.Bibliography
639.Focal dermal hypoplasia
640.Forbes disease
641.Forney syndrome
642.Bibliography
643.Fragile X syndrome
644.Bibliography
645.Fragile XE syndrome
646.Franceschetti-Klein syndrome
647.Francois dyscephalic syndrome
648.Fraser syndrome
649.Bibliography
650.Frasier syndrome
651.Bibliography
652.Freeman-Sheldon syndrome
653.Friedreich ataxia
654.Bibliography
655.Frontometaphyseal dysplasia
656.Bibliography
657.Frontonasal dysplasia sequence
658.Fructokinase deficiency
659.Fructose-1,6-biphosphatase deficiency (Fructose-1, 6-diphosphatase deficiency)
660.Bibliography
661.Fructose-1-phosphate aldolase B deficiency
662.Fructosuria
663.Fryns syndrome
664.Bibliography
665.Furlong syndrome
666.Figure 1: Fetal alcohol syndrome.
667.Figure 2: Fetal alcohol syndrome.
668.Figure 3: Fetal alcohol syndrome.
669.FG syndrome.
670.Figure 1: Fibrodysplasia ossificans progressiva.
671.Figure 2: Fibrodysplasia ossificans progressiva.
672.G
673.G
674.G syndrome
675.G6PD deficiency
676.Gabrielli syndrome
677.Galactocerebrosidase deficiency
678.Galactokinase deficiency
679.Bibliography
680.Galactose-1-phosphate uridyltransferase deficiency
681.Galactose epimerase deficiency
682.Galactosemia
683.Bibliography
684.Galactosialidosis
685.Bibliography
686.Gangliosidosis
687.Gardner syndrome
688.Bibliography
689.Gaucher disease
690.Bibliography
691.Geleophysic dysplasia
692.Bibliography
693.Gilbert syndrome
694.Bibliography
695.Gilles de la Tourette syndrome
696.Gitelman syndrome
697.Globoid cell leukodystrophy
698.Glucocerebrosidase deficiency
699.Glucose phosphate isomerase deficiency
700.Bibliography
701.Glucose-6-phosphatase deficiency
702.Glucose-6-phosphate dehydrogenase deficiency
703.Bibliography
704.Glucose-6-phosphate isomerase deficiency
705.Glutaric acidemia type I (glutaric aciduria type I)
706.Bibliography
707.Glutaric acidemia type II (Glutaric aciduria type II)
708.Bibliography
709.Glutaryl-CoA dehydrogenase deficiency
7 .Glycerol kinase deficiency
711.Bibliography
712.Glycine encephalopathy
713.Glycogen storage disease type 0, liver
714.Bibliography
715.Glycogen storage disease type I (IA and IB)
716.Glycogen storage disease type II
717.Glycogen storage disease type III
718.Glycogen storage disease type IV
719.Glycogen storage disease type V
720.Glycogen storage disease type VI
721.Glycogen storage disease type VII
722.Bibliography
723.Glycogen storage disease type VIII
724.Glycogen storage disease type IX
725.Bibliography
726.Glycogen synthase deficiency
727.GM1 gangliosidosis
728.Bibliography
729.GM2 gangliosidosis
730.Goldenhar syndrome
731.Bibliography
732.Goltz syndrome
733.Bibliography
734.Goltz-Gorlin syndrome
735.Gorham syndrome
736.Gorham-Stout disease
737.Bibliography
738.Gorlin syndrome
739.Gorlin-Cohen syndrome
740.Gorlin-Gold syndrome
741.Grebe syndrome
742.Bibliography
743.Greig cephalopolysyndactyly syndrome
744.Bibliography
745.Gaucher disease.
746.Table 3a: Classes of G6PD deficiency
747.Table 3b: Drugs and other agents that can cause hemolysis in glucose-6-phosphate dehydrogenase deficiency
748.Figure 1: Goldenhar syndrome.
749.Figure 2: Goldenhar syndrome.
750.Figure 3 a, b: Goldenhar syndrome.
751.H
752.H
753.Haddad syndrome
754.Hajdu-Cheney syndrome
755.Bibliography
756.Hallermann-Streiff syndrome
757.Bibliography
758.Hallervorden-Spatz disease
759.Bibliography
760.Hand-Schüller-Christian disease
761.Hanhart syndrome
762.Happy puppet syndrome
763.Hartnup disorder
764.Bibliography
765.Hawkinsinuria
766.Hay-Wells ectodermal dysplasia
767.Heart-hand syndrome
768.Hecht Beals syndrome
769.Hecht syndrome
770.Hemifacial microsomia
771.Hemoglobin H disease
772.Hemoglobin S-thalassemia
773.Hemophilia
774.Hemophilia A
775.Bibliography
776.Hemophilia B
777.Bibliography
778.Henoch-Schönlein purpura
779.Bibliography
780.Hepatic phosphorylase b kinase deficiency
781.Hepatolenticular degeneration
782.Hereditary angioedema
783.Bibliography
784.Hereditary angioneurotic edema
785.Hereditary antithrombin deficiency
786.Hereditary sensory and autonomic neuropathy (HSAN)
787.Hereditary fructose intolerance
788.Bibliography
789.Hereditary hemorrhagic telangiectasia
790.Hereditary onychoosteodysplasia
791.Hereditary spherocytosis
792.Bibliography
793.Hereditary xanthinuria
794.Hermansky-Pudlak syndrome
795.Bibliography
796.Hers disease
797.Bibliography
798.Heterotaxy syndrome
799.Hexokinase deficiency
800.Bibliography
801.HHH syndrome
802.Bibliography
803.Hirschsprung disease
804.Bibliography
805.Histidinemia
806.Bibliography
807.Histiocytosis X
808.Holocarboxylase synthetase deficiency
809.Bibliography
8 .Holoprosencephaly sequence
811.Bibliography
812.Holt-Oram syndrome
813.Bibliography
814.Homocystinuria
815.Bibliography
816.Houston-Harris achondrogenesis
817.Hunter syndrome
818.Bibliography
819.Hurler syndrome
820.Bibliography
821.Hurler-Scheie syndrome
822.Bibliography
823.Hutchinson-Gilford syndrome
824.Hydantoin
825.Hydroxyacyl-CoA dehydrogenase deficiency
826.Hydroxydicarboxilic acidemia
827.Hydroxymethylglutaric aciduria
828.Bibliography
829.Hydroxymethyl glutaryl-CoA lyase deficiency
830.Hydroxyprolinemia
831.Bibliography
832.Hyperekplexia (hyperexplexia)
833.Hyperglycerolemia
834.Hyperglycinemia (nonketotic)
835.Hyperhydroxyprolinemia
836.Hyperimmunoglobulin D syndrome
837.Hyperimmunoglobulin E syndrome
838.Hyperkalemic periodic paralysis
839.Hyperlysinemia
840.Hyperornithinemia with gyrate atrophy of the choroid and retina
841.Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
842.Hyperoxaluria
843.Hyperprolinemia type I
844.Bibliography
845.Hyperprolinemia type II
846.Bibliography
847.Hyperprostaglandin E syndrome
848.Hypertelorism-hypospadias syndrome
849.Bibliography
850.Hypochondroplasia
851.Bibliography
852.Hypoglossia-hypodactyly syndrome
853.Hypohidrotic ectodermal dysplasia, autosomal dominant type
854.Hypokalemic periodic paralysis
855.Hypomelanosis of Ito
856.Bibliography
857.Hypoparathyroidism-Retardation-Dysmorphism syndrome
858.Hypophosphatasia
859.Bibliography
860.Hallervorden-Spatz disease.
861.Spherocytosis.
862.Homocystinuria.
863.Hunter syndrome.
864.Hurler syndrome.
865.Figure 1: Hypophosphatasia.
866.Figure 2: Hypophosphatasia.
867.Figure 3: Hypophosphatasia.
868.Figure 4: Hypophosphatasia.
869.I
870.I
871.I-cell disease
872.Bibliography
873.Ichthyosis
874.Bibliography
875.Idiopathic basal ganglia calcification
876.Immotile cilia syndrome
877.Incontinentia pigmenti
878.Bibliography
879.Incontinentia pigmenti achromians
880.Infantile cortical hyperostosis
881.Infantile Refsum disease
882.Bibliography
883.Isovaleric Acidemia
884.Bibliography
885.Isovaleryl-CoA dehydrogenase deficiency
886.Ivemark syndrome
887.Ichthyosis.
888.Figure 1: Incontinentia pigmenti.
889.Figure 2: Incontinentia pigmenti.
890.J
891.J
892.Jackson-Lawler syndrome
893.Jacobsen syndrome
894.Jadassohn-Lewandowski syndrome
895.Jansen-type metaphyseal dysplasia
896.Jansky-Bielschowsky disease
897.Bibliography
898.Jarcho-Levin syndrome
899.Bibliography
900.Jervell and Lange-Nielsen syndrome
901.Jeune syndrome
902.Bibliography
903.Job syndrome
904.Bibliography
905.Johanson-Blizzard syndrome
906.Bibliography
907.Joseph disease
908.Bibliography
909.Joubert syndrome
9 .Bibliography
911.Joubert-Boltshauser syndrome
912.Juvenile hyaline fibromatosis
913.Bibliography
914.Juvenile macular degeneration
915.Juvenile spinal muscle atrophy
916.Jarcho-Levin syndrome.
917.K
918.K
919.Kabuki syndrome
920.Bibliography
921.Kallmann syndrome
922.Bibliography
923.Kanner syndrome
924.Kanzaki disease
925.Kartagener syndrome
926.Bibliography
927.Kasabach-Merritt syndrome
928.Bibliography
929.Kaufman-McKusick syndrome
930.Kearns-Sayre syndrome
931.Bibliography
932.Kelley-Seegmiller syndrome
933.Kenny syndrome
934.Bibliography
935.Kenny-Caffey syndrome
936.Ketotic hyperglycinemia
937.KID syndrome
938.King syndrome
939.Bibliography
940.King-Denborough syndrome
941.Kinky hair syndrome
942.Kleeblattschaedel
943.Bibliography
944.Klein-Waardenburg syndrome
945.Klinefelter syndrome
946.Bibliography
947.Klippel-Feil sequence
948.Bibliography
949.Klippel-Trenaunay syndrome
950.Klippel-Trenaunay-Weber syndrome
951.Bibliography
952.Kniest dysplasia
953.Kniest syndrome
954.Bibliography
955.Kohlmeier-Degos disease
956.Kok disease
957.Kostmann disease
958.Bibliography
959.Kozlowski spondylometaphyseal dysplasia
960.Krabbe disease
961.Bibliography
962.Kugelberg-Welander disease
963.Bibliography
964.Kabuki syndrome.
965.Kartagener syndrome.
966.Figure 1: Kleeblattschaedel.
967.Figure 2: Kleeblattschaedel.
968.Figure 1: Klinefelter syndrome.
969.Figure 2: Klinefelter syndrome.
970.Klippel-Feil sequence.
971.Klippel-Trenaunay-Weber syndrome.
972.L
973.L
974.Lacrimoauriculodentodigital syndrome
975.LADD syndrome
976.Landouzy-Dejerine disease
977.Langer mesomelic dysplasia
978.Bibliography
979.Langer-Giedion syndrome
980.Bibliography
981.Langer-Saldino achondrogenesis
982.Langerhans cell histiocytosis
983.Bibliography
984.Laron dwarfism
985.Bibliography
986.Larsen syndrome
987.Bibliography
988.Laryngo-onycho-cutaneous syndrome
989.Bibliography
990.Late infantile neuronal ceroid lipofuscinosis
991.Laurence-Moon syndrome
992.Bibliography
993.LCAD deficiency
994.Leber congenital amaurosis
995.Bibliography
996.Leber hereditary optic atrophy
997.Leber hereditary optic neuropathy
998.Bibliography
999.Legg-Calvé-Perthes disease
00.Bibliography
01.Leigh disease
02.Bibliography
03.Lennox-Gastaut syndrome
04.Bibliography
05.Lenz-Majewski hyperostosis syndrome
06.Bibliography
07.LEOPARD syndrome
08.Bibliography
09.Leprechaunism
.Bibliography
11.Leri-Weill dyschondrosteosis
12.Bibliography
13.Lesch-Nyhan syndrome
14.Bibliography
15.Letterer-Siwe disease
16.Levy-Hollister syndrome
17.Bibliography
18.Liddle syndrome
19.Bibliography
20.Li-Fraumeni syndrome
21.Bibliography
22.Limb-girdle muscular dystrophy
23.Bibliography
24.Linear sebaceous nevus syndrome
25.Lipofuscinosis
26.Lip pit-cleft lip syndrome
27.Lipodystrophy
28.Bibliography
29.Lipoid proteinosis
30.Bibliography
31.Lipoprotein lipase deficiency
32.Bibliography
33.Lissencephaly syndrome
34.Liver glycogen phosphorylase deficiency
35.Loeys-Dietz syndrome
36.Bibliography
37.LOGIC syndrome
38.Long-chain acyl-CoA dehydrogenase deficiency
39.Bibliography
40.Long QT syndrome
41.Bibliography
42.Louis-Bar syndrome
43.Lowe syndrome
44.Bibliography
45.Lown-Ganong-Levine syndrome
46.Bibliography
47.Lymphedema-distichiasis syndrome
48.Bibliography
49.Lysinuric protein intolerance
50.Bibliography
51.Figure 1: Langerhans cell histiocytosis.
52.Figure 2: Langerhans cell histiocytosis.
53.Legg-Calvé-Perthes disease.
54.Lesch-Nyhan syndrome.
55.Lipoid proteinosis.
56.Long QT syndrome.
57.M
58.M
59.Machado-Joseph disease
60.MADD
61.Maffucci syndrome
62.Majewski-type short rib-polydactyly syndrome
63.Malignant atrophic papulosis
64.Bibliography
65.Malignant hyperthermia susceptibility
66.Bibliography
67.Malpuech syndrome
68.Bibliography
69.Mandibulofacial dysostosis
70.Mannosidosis
71.Bibliography
72.Maple syrup urine disease
73.Bibliography
74.Marden-Walker syndrome
75.Bibliography
76.Marfan syndrome
77.Bibliography
78.Marinesco-Sjögren syndrome
79.Bibliography
80.Maroteaux-Lamy syndrome
81.Bibliography
82.Marshall syndrome
83.Bibliography
84.Marshall-Smith syndrome
85.Bibliography
86.Martin-Bell syndrome
87.MASA syndrome
88.Bibliography
89.Maternal phenylketonuria syndrome
90.Bibliography
91.Mayer-Rokitansky-Kuster syndrome
92.Mayer-Rokitansky-Kuster-Hauser syndrome
93.May-Hegglin anomaly
94.MCAD deficiency
95.McArdle syndrome
96.Bibliography
97.McCune-Albright syndrome
98.Bibliography
99.McKusick-Kaufman syndrome
1 0.Bibliography
1 1.Meadow syndrome
1 2.Meckel syndrome
1 3.Meckel-Gruber syndrome
1 4.Bibliography
1 5.Median cleft face syndrome
1 6.Bibliography
1 7.Medium-chain acyl-CoA dehydrogenase deficiency
1 8.Bibliography
1 9.MELAS syndrome
11 .Bibliography
1111.Melkersson syndrome
1112.Melkersson-Rosenthal syndrome
1113.Bibliography
1114.Melnick-Fraser syndrome
1115.Bibliography
1116.Melnick-Needles syndrome
1117.Bibliography
1118.Menkes kinky hair syndrome
1119.Bibliography
1120.MERRF syndrome
1121.Bibliography
1122.Metachromatic leukodystrophy
1123.Bibliography
1124.Metaphyseal chondrodysplasia, Jansen type
1125.Bibliography
1126.Metaphyseal chondrodysplasia, McKusick type
1127.Metaphyseal chondrodysplasia, Schmid type
1128.Bibliography
1129.Metaphyseal dysplasia, Jansen type
1130.Metaphyseal dysplasia, McKusick type
1131.Metaphyseal dysplasia, Pyle type
1132.Metaphyseal dysplasia, Schmid type
1133.Metatropic dwarfism
1134.Bibliography
1135.Metatropic dysplasia, type I
1136.Metatropic dysplasia, type II
1137.Methemoglobinemia
1138.Bibliography
1139.Methylene tetrahydrofolate reductase deficiency
1140.Methylmalonic acidemia
1141.Bibliography
1142.Methylmalonic aciduria
1143.Methylmalonyl-coenzyme A mutase deficiency
1144.Mevalonic aciduria
1145.Bibliography
1146.Mevalonate kinase deficiency
1147.Michels syndrome
1148.Microphthalmia-linear skin defects syndrome
1149.Bibliography
1150.MIDAS syndrome
1151.Miller syndrome
1152.Bibliography
1153.Miller-Dieker syndrome
1154.Bibliography
1155.Mingarelli syndrome
1156.Mitochondrial acetoacetyl-CoA thiolase deficiency
1157.Mitochondrial disorders
1158.Bibliography
1159.Mitochondrial trifunctional protein deficiency
1160.Bibliography
1161.Möbius sequence
1162.MOCOD
1163.Moebius sequence
1164.Bibliography
1165.Mohr syndrome
1166.Bibliography
1167.Molybdenum cofactor deficiency
1168.Bibliography
1169.Morquio syndrome
1170.Bibliography
1171.Morquio-Brailsford syndrome
1172.Moyamoya syndrome
1173.Bibliography
1174.MTHFR deficiency
1175.Muckle-Wells syndrome
1176.Mucolipidosis I
1177.Mucolipidosis II
1178.Mucolipidosis III
1179.Mucolipidosis IV
1180.Bibliography
1181.Mucopolysaccharidosis I H
1182.Mucopolysaccharidosis I H/S
1183.Mucopolysaccharidosis I S
1184.Mucopolysaccharidosis II
1185.Mucopolysaccharidosis III
1186.Mucopolysaccharidosis IV
1187.Mucopolysaccharidosis VI
1188.Mucopolysaccharidosis VII
1189.Mucoviscidosis
1190.Mulibrey nanism syndrome
1191.Bibliography
1192.Multiminicore disease
1193.Multiple acyl-CoA dehydrogenase deficiency
1194.Multiple carboxylase deficiency
1195.Multiple epiphyseal dysplasia
1196.Bibliography
1197.Multiple exostoses syndrome
1198.Bibliography
1199.Multiple lentigines syndrome
1200.Multiple pterygium syndrome
1201.Bibliography
1202.Multiple synostoses syndrome
1203.Bibliography
1204.Multisynostotic osteodysgenesis
1205.Münchausen syndrome by proxy
1206.Bibliography
1207.MURCS association
1208.Bibliography
1209.Muscle-eye-brain disease
12 .Bibliography
1211.Muscle phosphofructokinase deficiency
1212.Muscle phosphorylase deficiency
1213.Muscular dystrophy
1214.Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
1215.Myositis ossificans progressiva
1216.Myotonia congenita
1217.Bibliography
1218.Myotonic dystrophy
1219.Bibliography
1220.Myotubular myopathy
1221.Bibliography
1222.Figure 1: Marfan syndrome.
1223.Figure 2: Marfan syndrome.
1224.Maroteaux-Lamy syndrome.
1225.McCune-Albright syndrome.
1226.Figure 1: Melkersson-Rosenthal syndrome.
1227.Figure 2: Melkersson-Rosenthal syndrome.
1228.Melnick-Fraser syndrome.
1229.Figure 1: Miller syndrome.
1230.Figure 2: Miller syndrome.
1231.Figure 1: Miller-Dieker syndrome.
1232.Figure 2: Miller-Dieker syndrome.
1233.Figure 1: Morquio syndrome.
1234.Figure 2: Morquio syndrome.
1235.Figure 3: Morquio syndrome.
1236.Moyamoya syndrome.
1237.Multiple epiphyseal dysplasia.
1238.Myotonic dystrophy.
1239.N
1240.N
1241.N-Acetylglutamate synthetase deficiency
1242.Bibliography
1243.NADH-coenzyme Q reductase deficiency
1244.NADH-ubiquinone oxidoreductase
1245.Nager acrofacial dysostosis syndrome
1246.Nager syndrome
1247.Bibliography
1248.NAGS deficiency
1249.Nail-patella syndrome
1250.Bibliography
1251.NARP syndrome
1252.Bibliography
1253.Nemaline rod myopathy
1254.Bibliography
1255.Neonatal adrenoleukodystrophy
1256.Neonatal progeroid syndrome
1257.Bibliography
1258.Netherton syndrome
1259.Bibliography
1260.Neu-Laxova syndrome
1261.Bibliography
1262.Neurocutaneous melanosis
1263.Bibliography
1264.Neurodegeneration with brain iron accumulation
1265.Neurofibromatosis
1266.Bibliography
1267.Neuronal ceroid lipofuscinosis
1268.Nevoid basal cell carcinoma syndrome
1269.Nevus sebaceus of Jadassohn
1270.Bibliography
1271.Niemann-Pick disease
1272.Bibliography
1273.Nonketotic hyperglycinemia
1274.Bibliography
1275.Noonan syndrome
1276.Bibliography
1277.Nemaline rod myopathy.
1278.Neurofibromatosis.
1279.Nevus sebaceus of Jadassohn.
1280.Noonan syndrome.
1281.O
1282.O
1283.OAT deficiency
1284.Oculoauriculovertebral syndrome
1285.Oculocerebrocutaneous syndrome
1286.Oculocerebrorenal syndrome
1287.Oculodentodigital syndrome
1288.Bibliography
1289.Oculodentoosseous dysplasia
1290.ODOD
1291.OEIS complex
1292.Oligohydramnios sequence
1293.Ollier disease
1294.Bibliography
1295.Omodysplasia
1296.Bibliography
1297.Ondine’s curse
1298.Bibliography
1299.Ophthalmoplegia plus
1300.Opitz syndrome
1301.Opitz-Frias syndrome
1302.Opitz G/BBB syndrome
1303.Opitz-Kaveggia syndrome
1304.Opitz trigonocephaly syndrome
1305.Oral-facial-digital syndrome, type I
1306.Bibliography
1307.Oral-facial-digital syndrome, type II
1308.Oral-facial-digital syndromes, types III–XI
1309.Ornithine carbamoyltransferase deficiency
13 .Ornithine delta-aminotransferase deficiency
1311.Bibliography
1312.Ornithine transcarbamylase deficiency
1313.Bibliography
1314.Oromandibular-limb hypogenesis
1315.Bibliography
1316.Orotic aciduria
1317.Bibliography
1318.Osgood-Schlatter disease
1319.Bibliography
1320.Osler-Weber-Rendu syndrome
1321.Bibliography
1322.Osteitis fibrosa cystica
1323.Osteochondromatosis syndrome
1324.Osteogenesis imperfecta
1325.Bibliography
1326.Osteopetrosis
1327.Bibliography
1328.Otopalatodigital syndrome, type I
1329.Bibliography
1330.Otopalatodigital syndrome, type II
1331.Bibliography
1332.Oxalosis
1333.Bibliography
1334.Figure 1: Ollier disease.
1335.Figure 2: Ollier disease.
1336.Figure 1: Oral-facial-digital syndrome, type I.
1337.Figure 2: Oral-facial-digital syndrome, type I.
1338.Ornithine transcarbamylase deficiency.
1339.Osler-Weber-Rendu syndrome.
1340.Figure 1: Osteogenesis imperfecta.
1341.Figure 2: Osteogenesis imperfecta.
1342.Figure 1: Osteopetrosis.
1343.Figure 2: Osteopetrosis.
1344.P
1345.P
1346.Pachydermoperiostosis syndrome
1347.Bibliography
1348.Pachyonychia congenita syndrome
1349.Bibliography
1350.Palizaeus-Merzbacher disease
1351.Pallister-Hall syndrome
1352.Bibliography
1353.Pallister-Killian syndrome
1354.Bibliography
1355.Pantothenate kinase–associated neurodegeneration (PKAN)
1356.Papillon-Lefèvre syndrome
1357.Bibliography
1358.Papillorenal syndrome
1359.Bibliography
1360.Paramyotonia congenita
1361.Bibliography
1362.Parenti-Fraccaro achondrogenesis
1363.Parry-Romberg disease
1364.Patau syndrome
1365.Pearson syndrome
1366.Bibliography
1367.Pelizaeus-Merzbacher disease
1368.Bibliography
1369.Pena-Shokeir syndrome, type I
1370.Pena-Shokeir syndrome, type II
1371.Pendred syndrome
1372.Bibliography
1373.Penta X syndrome
1374.Bibliography
1375.Pentalogy of Cantrell
1376.Bibliography
1377.Perheentupa syndrome
1378.Periodic paralysis
1379.Perlman syndrome
1380.Bibliography
1381.Peters Plus syndrome
1382.Bibliography
1383.Petty syndrome
1384.Bibliography
1385.Peutz-Jeghers syndrome
1386.Bibliography
1387.Pfeiffer syndrome
1388.Bibliography
1389.PHACE association
1390.Bibliography
1391.Phenylketonuria
1392.Bibliography
1393.Phosphoenolpyruvate carboxykinase deficiency
1394.Bibliography
1395.Phosphofructokinase deficiency
1396.Phosphoglycerate kinase deficiency
1397.Bibliography
1398.Phosphohexose isomerase deficiency
1399.Phosphorylase kinase deficiency
1400.Pierre Robin sequence
1401.Bibliography
1402.Pierre Robin syndrome
1403.Pitt-Rogers-Danks syndrome
1404.PKU
1405.Plott syndrome
1406.Bibliography
1407.Poikiloderma congenitale syndrome
1408.Poland sequence
1409.Bibliography
14 .Polyostotic fibrous dysplasia
1411.Polysplenia
1412.Bibliography
1413.Pompe disease
1414.Bibliography
1415.Popliteal pterygium syndrome
1416.Bibliography
1417.Porphyria
1418.Bibliography
1419.Postaxial acrofacial dysostosis syndrome
1420.Potter syndrome
1421.Bibliography
1422.Prader-Willi syndrome
1423.Bibliography
1424.Progeria
1425.Bibliography
1426.Progressive diaphyseal dysplasia
1427.Progressive hereditary nephritis
1428.Progressive myoclonus epilepsies syndrome
1429.Prolidase deficiency
1430.Bibliography
1431.Proline oxidase (dehydrogenase) deficiency
1432.Prolonged QT syndrome
1433.Propionic acidemia
1434.Bibliography
1435.Protein C deficiency
1436.Bibliography
1437.Protein S deficiency
1438.Bibliography
1439.Proteus syndrome
1440.Bibliography
1441.Prune belly syndrome
1442.Bibliography
1443.Pseudoachondroplasia
1444.Bibliography
1445.Pseudoachondroplastic spondyloepiphyseal dysplasia
1446.Pseudohermaphroditism, male
1447.Pseudohyperaldosteronism
1448.Pseudo–Hurler polydystrophy
1449.Pseudo–Hurler syndrome
1450.Bibliography
1451.Pseudohypohyperparathyroidism
1452.Pseudohypoparathyroidism
1453.Bibliography
1454.Pseudometatrophic dysplasia
1455.Pseudopseudohypoparathyroidism
1456.Pseudothalidomide syndrome
1457.Bibliography
1458.Pseudovaginal perineoscrotal hypospadias
1459.Pseudoxanthoma elasticum
1460.Bibliography
1461.PTEN MATCHS syndrome
1462.Pterygium syndrome
1463.Purine nucleoside phosphorylase deficiency
1464.Bibliography
1465.Pycnodysostosis
1466.Pyknodysostosis
1467.Bibliography
1468.Pyle disease
1469.Pyle metaphyseal dysplasia
1470.Bibliography
1471.Pyruvate dehydrogenase deficiency
1472.Bibliography
1473.Pyruvate kinase deficiency
1474.Bibliography
1475.Pachyonychia congenita syndrome.
1476.Peutz-Jeghers syndrome.
1477.Figure 1: Pierre Robin syndrome.
1478.Figure 2: Pierre Robin syndrome.
1479.Figure 3: Pierre Robin syndrome.
1480.Table 4: Anesthetic drugs and porphyria
1481.Figure 1: Prader-Willi syndrome.
1482.Figure 2: Prader-Willi.
1483.Figure 1: Proteus syndrome.
1484.Figure 2: Proteus syndrome.
1485.Prune belly syndrome.
1486.R
1487.R
1488.Ramsay Hunt syndrome
1489.Bibliography
1490.Rapp-Hodgkin ectodermal dysplasia
1491.Bibliography
1492.Refsum disease
1493.Bibliography
1494.Respiratory chain disorders
1495.Retinoic acid embryopathy
1496.Bibliography
1497.Rett syndrome
1498.Bibliography
1499.Rhizomelic chondrodysplasia punctata
1500.Ribbing-type multiple epiphyseal dysplasia
1501.Richner-Hanhart syndrome
1502.Rieger syndrome
1503.Bibliography
1504.Rigid spine syndrome
1505.Bibliography
1506.Riley-Day syndrome
1507.Riley-Smith syndrome
1508.Bibliography
1509.Roberts syndrome
15 .Robin sequence
1511.Robinow syndrome
1512.Bibliography
1513.ROHHAD syndrome
1514.Bibliography
1515.Rokitansky malformation sequence
1516.Rokitansky-Kuster-Hauser syndrome
1517.Bibliography
1518.Romano-Ward syndrome
1519.Romberg disease
1520.Bibliography
1521.Rothmund-Thomson syndrome
1522.Bibliography
1523.Rotor syndrome
1524.Bibliography
1525.Rubinstein-Taybi syndrome
1526.Bibliography
1527.Russell-Silver dwarf
1528.Russell-Silver syndrome
1529.Bibliography
1530.Ruvalcaba syndrome
1531.Bibliography
1532.Ruvalcaba-Myhre syndrome
1533.Ruvalcaba-Reichert-Smith syndrome
1534.Romberg disease.
1535.Figure 1: Rubinstein-Taybi syndrome.
1536.Figure 2: Rubinstein-Taybi syndrome.
1537.Figure 1: Russell-Silver syndrome.
1538.Figure 2: Russell-Silver syndrome.
1539.Ruvalcaba syndrome.
1540.S
1541.S
1542.Sacral agenesis
1543.Saethre-Chotzen syndrome
1544.Bibliography
1545.Saldino-Noonan–type short rib-polydactyly syndrome
1546.Sandhoff disease
1547.Bibliography
1548.Sandifer syndrome
1549.Bibliography
1550.Sanjad-Sakati syndrome
1551.Bibliography
1552.Sanfilippo syndrome
1553.Bibliography
1554.SC phocomelia syndrome
1555.SCAD deficiency
1556.Scheie syndrome
1557.Bibliography
1558.Scheuermann disease
1559.Bibliography
1560.Schilder disease
1561.Schindler disease
1562.Bibliography
1563.Schinzel-Giedion syndrome
1564.Bibliography
1565.Schizencephaly
1566.Bibliography
1567.Schmid-type metaphyseal dysplasia
1568.Schönlein-Henoch purpura
1569.Schwartz-Jampel syndrome
1570.Bibliography
1571.SCIDS
1572.Schimmelpenning-Feuerstein-Mims syndrome
1573.Sclerosteosis
1574.Bibliography
1575.Sebaceous nevus syndrome
1576.Sebastian syndrome
1577.Seckel syndrome
1578.Bibliography
1579.Segawa syndrome
1580.Bibliography
1581.Seip syndrome
1582.Seip-Lawrence syndrome
1583.Senter syndrome
1584.Bibliography
1585.Senter-KID syndrome
1586.Septooptic dysplasia
1587.Bibliography
1588.Severe combined immunodeficiency syndrome
1589.Bibliography
1590.Severe X-linked neutropenia
1591.Shah-Waardenburg syndrome
1592.Short-chain acyl-CoA dehydrogenase deficiency
1593.Bibliography
1594.Short rib-polydactyly syndrome
1595.Bibliography
1596.Shprintzen syndrome
1597.Shprintzen-Goldberg syndrome
1598.Bibliography
1599.Shwachman syndrome
1600.Bibliography
1601.Shwachman-Bodian-Diamond syndrome
1602.Shwachman-Diamond syndrome
1603.Sialidosis
1604.Bibliography
1605.Sickle cell disease
1606.Bibliography
1607.Siemerling-Creutzfeldt disease
1608.Simpson dysmorphia syndrome
1609.Simpson-Golabi-Behmel syndrome
16 .Bibliography
1611.Sirenomelia
1612.Sjögren-Larsson syndrome
1613.Bibliography
1614.Sly syndrome
1615.Bibliography
1616.Smith-Lemli-Opitz syndrome
1617.Bibliography
1618.Smith-Magenis syndrome
1619.Bibliography
1620.Sneddon syndrome
1621.Bibliography
1622.Sotos syndrome
1623.Bibliography
1624.Spastic paraplegia-1
1625.Spherocytosis
1626.Spielmeyer-Vogt disease
1627.Bibliography
1628.Spinal muscular atrophy
1629.Bibliography
1630.Spinal muscular atrophy type III
1631.Spinocerebellar ataxia type 3
1632.Spondylocarpotarsal synostosis syndrome
1633.Bibliography
1634.Spondylocostal dysostosis
1635.Spondyloepiphyseal dysplasia congenita
1636.Bibliography
1637.Spondyloepiphyseal dysplasia tarda
1638.Bibliography
1639.Spondylometaphyseal dysplasia
1640.Bibliography
1641.Spondylothoracic dysplasia
1642.Stargardt disease
1643.Bibliography
1644.Steinert disease
1645.Steroid 5α-reductase 2 deficiency
1646.Stickler syndrome
1647.Bibliography
1648.Stiff-baby syndrome
1649.Bibliography
1650.Sturge-Weber syndrome
1651.Bibliography
1652.Stuve-Wiedemann syndrome
1653.Succinate-coenzyme Q reductase deficiency
1654.Sugarman syndrome
1655.Sulfite oxidase deficiency
1656.Summitt syndrome
1657.Swiss-type agammaglobulinemia
1658.Figure 1: Saethre-Chotzen syndrome.
1659.Figure 2: Saethre-Chotzen syndrome.
1660.Sandhoff disease.
1661.Sanfilippo syndrome.
1662.Severe combined immunodeficiency syndrome.
1663.Table 5: Potential misdiagnoses in sickle cell disease
1664.Figure 1: Smith-Lemli-Opitz syndrome.
1665.Figure 2: Smith-Lemli-Opitz syndrome.
1666.Spinal muscular atrophy type I (acute Werdnig-Hoffmann disease).
1667.Figure 1: Spondyloepiphyseal dysplasia congenita.
1668.Figure 2: Spondyloepiphyseal dysplasia congenita.
1669.Figure 3: Spondyloepiphyseal dysplasia congenita.
1670.Figure 4: Spondyloepiphyseal dysplasia congenita.
1671.Figure 1: Stickler syndrome.
1672.Figure 2: Stickler syndrome.
1673.Figure 1: Sturge-Weber syndrome.
1674.Figure 2: Sturge-Weber syndrome.
1675.T
1676.T
1677.Tangier disease
1678.Bibliography
1679.TAR syndrome
1680.Tarui disease
1681.Taybi syndrome
1682.Tay-Sachs disease
1683.Bibliography
1684.Telecanthus-hypospadias syndrome
1685.Tetrahydrobiopterin (BH4) deficiency
1686.Thalassemia
1687.Bibliography
1688.Thanatophoric dwarfism
1689.Bibliography
1690.Thanatotrophic dysplasia
1691.Thomsen disease
1692.Thomsen-type myotonia congenita
1693.Thoracic-pelvic-phalangeal dystrophy
1694.Thoracoabdominal syndrome
1695.Thrombocytopenia-absent radius syndrome
1696.Bibliography
1697.Thurston syndrome
1698.Tibial aplasia-ectrodactyly syndrome
1699.Bibliography
1700.Timothy syndrome
1701.Toriello-Carey syndrome
1702.Bibliography
1703.Toulouse-Lautrec Disease
1704.Touraine-Solente-Golé syndrome
1705.Tourette syndrome
1706.Bibliography
1707.Townes-Brocks syndrome
1708.Bibliography
1709.Transcobalamin II deficiency
17 .Bibliography
1711.Trapezoidocephaly-synostosis syndrome
1712.Treacher Collins syndrome
1713.Bibliography
1714.Trichodentoosseous syndrome
1715.Bibliography
1716.Trichorhinophalangeal syndrome, type I
1717.Bibliography
1718.Trichorhinophalangeal syndrome, type II
1719.Trifunctional protein deficiency
1720.Triose phosphate isomerase deficiency
1721.Bibliography
1722.Trismus-pseudocamptodactyly syndrome
1723.Trisomy 3p
1724.Bibliography
1725.Trisomy 4p
1726.Bibliography
1727.Trisomy 8
1728.Bibliography
1729.Trisomy 9
1730.Bibliography
1731.Trisomy 13
1732.Bibliography
1733.Trisomy 18
1734.Bibliography
1735.Trisomy 21
1736.Tuberous sclerosis
1737.Bibliography
1738.Turcot syndrome
1739.Bibliography
1740.Turner syndrome
1741.Bibliography
1742.Tyrosinemia I
1743.Bibliography
1744.Tyrosinemia II
1745.Bibliography
1746.Tyrosinemia III
1747.Bibliography
1748.Tyrosinosis
1749.Thanatophoric dwarfism.
1750.Figure 1: Townes-Brocks syndrome.
1751.Figure 2: Townes-Brocks syndrome.
1752.Figure 1: Treacher Collins syndrome.
1753.Figure 2: Treacher Collins syndrome.
1754.Trichorhinophalangeal syndrome, type I.
1755.Trisomy 4p.
1756.Trisomy 4p.
1757.Figure 1: Trisomy 18.
1758.Figure 2: Trisomy 18.
1759.Figure 1: Tuberous sclerosis.
1760.Figure 2: Tuberous sclerosis.
1761.Figure 1: Turner syndrome.
1762.Figure 2: Turner syndrome.
1763.Figure 3: Turner syndrome.
1764.U
1765.U
1766.Ubiquinone-cytochrome c oxidoreductase deficiency
1767.Uhl anomaly
1768.Bibliography
1769.Urbach-Wiethe disease
1770.Uridine diphosphate galactose epimerase deficiency
1771.Bibliography
1772.Urticaria-deafness-amyloidosis syndrome
1773.Bibliography
1774.V
1775.V
1776.VACTERL association
1777.Valproate
1778.van Buchem disease
1779.van der Woude syndrome
1780.Bibliography
1781.Varadi-Papp syndrome
1782.VATER association
1783.Bibliography
1784.Velocardiofacial syndrome
1785.Bibliography
1786.Very long chain acyl-CoA dehydrogenase deficiency
1787.Bibliography
1788.Vitamin D–resistant rickets
1789.Bibliography
1790.Vogt-Spielmeyer disease
1791.Vohwinkel syndrome
1792.von Gierke disease
1793.Bibliography
1794.von Hippel-Lindau disease
1795.Bibliography
1796.von Recklinghausen disease
1797.von Voss-Cherstvoy syndrome
1798.von Willebrand disease
1799.Bibliography
1800.van der Woude syndrome.
1801.Velocardiofacial syndrome.
1802.von Hippel-Lindau syndrome.
1803.W
1804.W
1805.Waardenburg syndrome
1806.Bibliography
1807.WAGR syndrome
1808.Walker-Warburg syndrome
1809.Warfarin
18 .Watson syndrome
1811.Bibliography
1812.Weaver syndrome
1813.Bibliography
1814.Weaver-Smith syndrome
1815.Weber-Christian disease
1816.Bibliography
1817.Weill-Marchesani syndrome
1818.Bibliography
1819.Werdnig-Hoffmann disease
1820.Werner syndrome
1821.Bibliography
1822.Whelan syndrome
1823.Whistling face syndrome
1824.Bibliography
1825.Wiedemann-Rautenstrauch syndrome
1826.Wildervanck syndrome
1827.Bibliography
1828.Williams syndrome
1829.Bibliography
1830.Williams-Beuren syndrome
1831.Williams-Campbell syndrome
1832.Bibliography
1833.Wilson disease
1834.Bibliography
1835.Wiskott-Aldrich syndrome
1836.Bibliography
1837.Wolf-Hirschhorn syndrome
1838.Wolff-Parkinson-White syndrome
1839.Bibliography
1840.Wolfram syndrome
1841.Wolman disease
1842.Bibliography
1843.Weaver syndrome.
1844.Williams syndrome.
1845.X
1846.X
1847.Xanthine dehydrogenase deficiency
1848.Xanthinuria
1849.Bibliography
1850.X-associated tremor/ataxia syndrome
1851.Xeroderma pigmentosum
1852.Bibliography
1853.X-linked alpha-thalassemia/Mental retardation syndrome
1854.X-linked hydrocephalus syndrome
1855.X-linked hypophosphatemic rickets
1856.X-linked thrombocytopenia
1857.XO syndrome
1858.XXXXX syndrome
1859.XXY syndrome
1860.XXXY syndrome
1861.XXXXY
1862.XXYY syndrome
1863.XYY syndrome
1864.Bibliography
1865.Y
1866.Y
1867.Yunis-Varon syndrome
1868.Bibliography
1869.Z
1870.Z
1871.Zellweger syndrome
1872.Bibliography
1873.Appendix
1874.Appendix A: Steroid Biosynthesis
1875.Figure: Make Steroid Biosynthesis
1876.Appendix B: Tyrosine Metabolism
1877.Figure: Make Tyrosine Metabolism
1878.Appendix C: Simplified Urea Cycle
1879.Figure: Make Simplified Urea Cycle
1880.Appendix D: Metabolism of Branched-Chain Amino Acids
1881.Figure: Make Metabolism of Branched Chain Amino Acids
1882.Appendix E: Glycogen Metabolism
1883.Figure: Make Glycogen Metabolism
1884.Appendix F: The Porphyrias
1885.Figure: Make The Porphyrias
1886.Appendix
1887.Remarks
1888.Glossary

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