List of congenital disorders

• 1q21.1 copy number variations
• 1q21.1 deletion syndrome
• Aagenaes syndrome
• Aarskog–Scott syndrome
• Achondrogenesis
• Achondrogenesis type 1B
• Achondrogenesis type 2
• Achondroplasia
• Achondroplasia in children
• Acrodysostosis
• Agenesis
• Alcohol and pregnancy
• Allogeneic processed thymus tissue
• Amyoplasia
• Anorectal anomalies
• Arachnoid cyst
• Archibald's sign
• Asplenia with cardiovascular anomalies
• Atransferrinemia
• Autosomal dominant GTP cyclohydrolase I deficiency
• Autosomal recessive GTP cyclohydrolase I deficiency
• Ayazi syndrome
• Bangstad syndrome
• Barakat syndrome
• Bartter syndrome
• Benjamin syndrome
• Bhaskar–Jagannathan syndrome
• Boomerang dysplasia
• Bosch-Boonstra-Schaaf optic atrophy syndrome
• Bowen–Conradi syndrome
• Brugada syndrome
• Burnside–Butler syndrome
• Arterial calcification due to CD73 deficiency
• CAMFAK syndrome
• Camptodactyly
• CANDLE syndrome
• Cat eye syndrome
• Caudal duplication
• Caudal regression syndrome
• Char syndrome
• Animal chimerism
• Cleft palate incidence by population
• Clitoridectomy
• Congenital afibrinogenemia
• Congenital athymia
• Congenital fiber type disproportion
• Congenital hypofibrinogenemia
• Congenital iodine deficiency syndrome
• Congenital malaria
• Congenital nephrotic syndrome
• Congenital rubella syndrome
• Constriction ring syndrome
• Crandall syndrome
• Crane-Heise syndrome
• Craniopagus parasiticus
• Crossed beak
• Cyclopia
• Cystic hygroma
• D-glycerate dehydrogenase deficiency
• Denis Browne bar
• Diprosopus
• Dipygus
• Dopamine-responsive dystonia
• Duane syndrome
• Dyskeratosis congenita
• Ectopic pancreas
• Ehlers–Danlos syndromes
• Endocardial fibroelastosis
• Ethmocephaly
• EUROCAT (medicine)
• Craniofacial cleft
• Facial femoral syndrome
• Faciocardiorenal syndrome
• Factor I deficiency
• Familial male-limited precocious puberty
• Femur fibula ulna syndrome
• Fetal trimethadione syndrome
• Fetus in fetu
• Fibro-adipose vascular anomaly
• Fibrochondrogenesis
• Fibrodysplasia ossificans progressiva
• Filippi syndrome
• First arch syndrome
• Fleischer's syndrome
• Genitoplasty
• Goldberg–Shprintzen syndrome
• Goldenhar syndrome
• Guizar–Vasquez–Sanchez–Manzano syndrome
• Hajdu–Cheney syndrome
• Halal syndrome
• Halperin-Birk syndrome
• Hearing loss with craniofacial syndromes
• Hemifacial hypertrophy
• Hemifacial microsomia
• Heterotopia (medicine)
• Ho–Kaufman–Mcalister syndrome
• Holt–Oram syndrome
• Hydrolethalus syndrome
• Immunodeficiency 26
• Isodisomy
• Isolated congenital asplenia
• Juberg-Hayward syndrome
• Katz syndrome
• Kaufman oculocerebrofacial syndrome
• Keutel syndrome
• Kniest dysplasia
• Kvikk case
• Langer mesomelic dysplasia
• Laryngeal cleft
• Late congenital syphilitic oculopathy
• Majewski's polydactyly syndrome
• Malformative syndrome
• Malouf syndrome
• Malpuech facial clefting syndrome
• Marden–Walker syndrome
• Marfanoid
• Marinesco–Sjögren syndrome
• Maturity-onset diabetes of the young
• McCune–Albright syndrome
• MDP syndrome
• Meningohydroencephalocoele
• Meromelia
• Michels syndrome
• Miller–Dieker syndrome
• Minor physical anomalies
• Monstrous birth
• MORM syndrome
• Muenke syndrome
• Mulibrey nanism
• Multiple abnormalities
• MURCS association
• Muscle–eye–brain disease
• Myelokathexis
• Nager acrofacial dysostosis
• Nakajo syndrome
• Nasodigitoacoustic syndrome
• Neonatal teeth
• Neu–Laxova syndrome
• Neurocristopathy
• Neurocutaneous melanosis
• Neuronal ceroid lipofuscinosis
• Niemann–Pick disease
• Norman–Roberts syndrome
• North Carolina macular dystrophy
• Oculoauricular syndrome
• Opsismodysplasia
• Orofaciodigital syndrome 1
• Osteochondroprogenitor cell
• Ostravik-Lindemann-Solberg syndrome
• Palatal obturator
• Papillary fibroelastoma
• Parasitic twin
• Parastremmatic dwarfism
• Patterson syndrome
• Pelvic digit
• Persistent cloaca
• Pfeiffer syndrome
• Phosphate diabetes
• Pilotto syndrome
• Polymelia
• Ponseti method
• Porencephaly
• Potocki–Lupski syndrome
• Potocki–Shaffer syndrome
• Prader–Willi syndrome
• Primary congenital lymphedema
• Proboscis (anomaly)
• Progressive cardiac conduction defect
• Progressive familial intrahepatic cholestasis
• Proteus syndrome
• Pterin-4 alpha-carbinolamine dehydratase deficiency
• Radioulnar synostosis
• Renal dysplasia-limb defects syndrome
• Renal hypoplasia
• Renal–hepatic–pancreatic dysplasia
• Riboflavin-responsive exercise intolerance
• RIDDLE syndrome
• Ring chromosome 14 syndrome
• Ring chromosome 15
• Rosselli–Gulienetti syndrome
• Rubinstein–Taybi syndrome
• Rudiger syndrome
• Sacral agenesis
• Sacral dimple
• Sacrococcygeal teratoma
• Saethre–Chotzen syndrome
• Seckel syndrome
• Senior–Løken syndrome
• Sepiapterin reductase deficiency
• Sequence (medicine)
• SHORT syndrome
• Shprintzen–Goldberg syndrome
• Simpson–Golabi–Behmel syndrome
• Sirenomelia
• Situs ambiguus
• Situs inversus
• Smith–Fineman–Myers syndrome
• Snyder–Robinson syndrome
• Spondyloepimetaphyseal dysplasia
• Spondyloepimetaphyseal dysplasia, Strudwick type
• Spondyloperipheral dysplasia
• Status marmoratus
• Strophosomia
• Structural variation
• Tay–Sachs disease
• Teratoma
• Tetra-amelia syndrome
• Thumb hypoplasia
• TORCH syndrome
• Toxocara malayasiensis
• Transient myeloproliferative disease
• Transposition (birth defect)
• Trichothiodystrophy
• Triphalangeal thumb
• Triple-A syndrome
• Triploid syndrome
• Tyrosine hydroxylase deficiency
• Ulas family
• Ulnar dimelia
• Umbilical cord ulceration and intestinal atresia
• Urofacial syndrome
• VACTERL association
• Vaginal septum
• Van der Woude syndrome
• Velopharyngeal inadequacy
• Vestigial twin
• Vici syndrome
• Waardenburg Syndrome Type 1
• Walker–Warburg syndrome
• Weaver syndrome
• Weissenbacher–Zweymüller syndrome
• Wilson–Turner syndrome
• Worth syndrome
• XX male syndrome
• Young–Simpson syndrome
• Zadik–Barak–Levin syndrome
• Zamzam–Sheriff–Phillips syndrome

See also

• Rare disease

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