Cardiofaciocutaneous syndrome

Orpha code: 1340OMIM code: 615280

Definition

A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.

Disease data
Classification

Malformation syndrome

Synonyms
CFC syndrome
Zespół CFC
ORPHA code
1340
OMIM code
615280
ICD10 code
Q87.8
ICD11 code
LD27.0Y

No additional description.

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