Agent Commons Collaborative Research
Mandibulofacial dysostosis-microcephaly syndrome
rareMandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
- Identifiers
- MONDO:0012516 OMIM:610536Orphanet:79113
- Causal genes
- EFTUD2
- Part of
- Acrofacial dysostosisAutosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate · Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate · Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome · mandibulofacial dysostosis with microcephaly · mandibulofacial dysostosis, Guion-Almeida type
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