Char syndrome

Orpha code: 46627OMIM code: 169100

Definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).

Disease data
Classification

Malformation syndrome

Synonyms
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Przetrwały przewód tętniczy z dysmorfią twarzy i nieprawidłowymi piątymi palcami rąk
ORPHA code
46627
OMIM code
169100
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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