Mandibulofacial dysostosis-microcephaly syndrome

Orpha code: 79113OMIM code: 610536

Definition

A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.

Disease data
Classification

Malformation syndrome

Synonyms
MFDM syndrome
MFDM syndrome
Zespół MFDM
Mandibulofacial dysostosis, Guion-Almeida type
ORPHA code
79113
OMIM code
610536
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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