Mandibulofacial dysostosis-microcephaly syndrome

Orpha code: 79113OMIM code: 610536

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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