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Conditions and Diseases: Congenital Syndromes, Congenital Malformations, and Inborn Errors of Metabolism

See also the Genetics subspecialty area for related information, including a link to OMIM. The dates in brackets ([]) indicate when the link entered the PEDINFO database.



Alport Syndrome


See also the Hematology-Oncology subspecialty area for related information.

Angelman Syndrome

Please also see Neurology.

Anorectal Malformations

Apert Syndrome

Arthrogryposis Multiplex Congenita


Biliary Atresia

Birthmarks, Hemangiomas, & Congenital Nevi

Carbohydrate-deficient Glycoprotein Syndrome

Cerebral Palsy

Please also see Neurology.

Charcot-Marie-Tooth Disease

CHARGE Syndrome

Chiari Malformation

Congenital Diaphragmatic Hernia

Cornelia de Lange Syndrome

Craniofacial Anomalies

Craniosynostosis, Cleft Lip, Cleft Palate, Crouzon Sundrome

Cri du Chat Syndome

Cystic Fibrosis

Cystic Hygroma


Down Syndrome

Dwarfism & Achondroplasia

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Familial Dysautonomia

Fetal Alcohol Syndrome

Fragile X Syndrome

Growth Failure/Short Stature

Heart Diseases, Congenital

For general resources related to Cardiology, see the Cardiology section in the Subspecialties, Medical I (A through G) page.


Hirschsprung's Disease


Please also see Neurology and Neurosurgery.

Immune Deficiencies including Severe Combined Immune Deficiency

Klippel-Fiel Syndrome [Sequence]


Long Q-T Syndrome

Marfan Syndrome

Mitochondrial Diseases

Muscular Dystrophy

Noonan Syndrome


Please also see Neurology.

Phenylketonuria (PKU)

Prader-Willi Syndrome


Rett Syndrome

Rubinstein-Taybi Syndrome

Spina Bifida (Spinal Dysraphism)

Please also see Neurology.

Spinal Muscular Atrophy

Stickler Syndrome

Storage Diseases

Tourette Syndrome

Please also see Neurology.

Treacher Collins Syndrome

Trisomies and Other Chromosomal Defects

Tuberous Sclerosis

Turner Syndrome

Urea Cycle Disorders

Vascular Malformations

Velo-Cardio-Facial Syndrome

Von Hippel-Lindau Disease

Williams Syndrome

Wolf-Hirschhorn (4P-) Syndrome

X-Linked Myotubular Myopathy

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