Orofaciodigital syndrome type 13

Orpha code: 141330OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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