Acrofrontofacionasal dysostosis

Orpha code: 1784OMIM code: 201180

Definition

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
Richieri-Costa-Colletto syndrome
Zespół Richieri, Costa i Colletto
ORPHA code
1784
OMIM code
201180
ICD10 code
Q75.1
ICD11 code
LD25.3

No additional description.

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