Orofaciodigital syndrome type 13

Orpha code: 141330OMIM code:

Definicja

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Degner syndrome
OFD13
OFD13
Oral-facial-digital syndrome type 13
Kod ORPHA
141330
Kod OMIM
-
Kod ICD10
Q87.0
Kod ICD11
LD25.00

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl