Cerebellar-facial-dental syndrome

Orpha code: 444072OMIM code: 616202

Definition

A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
Cerebellofaciodental syndrome
Cerebellofaciodental syndrome
ORPHA code
444072
OMIM code
616202
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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