Craniofaciofrontodigital syndrome

Orpha code: 363705OMIM code: 114620

Definition

Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).

Disease data
Classification

Disease

Synonyms
Cantu craniofaciofrontodigital syndrome
Zespół czaszkowo-twarzowo-czołowo-palcowy Cantu
ORPHA code
363705
OMIM code
114620
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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