Details of Disease | DrugMAP

General Information of Disease (ID: DISSZWPO)

Disease Name	Mandibulofacial dysostosis-microcephaly syndrome
Synonyms	Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate; MFDM; Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate; Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome; MFDGA; Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate; MFDM syndrome; mandibulofacial dysostosis with microcephaly; mandibulofacial dysostosis, Guion-Almeida type; mandibulofacial dysostosis-microcephaly syndrome
Definition	Mandibulofacial 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.
Disease Hierarchy	DISNBM5T: Acrofacial dysostosis DIS3HIWD: Autosomal dominant disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISSZWPO: Mandibulofacial dysostosis-microcephaly syndrome
Disease Identifiers	MONDO ID MONDO_0012516 MESH ID C537405 UMLS CUI C1864652 OMIM ID 610536 MedGen ID 355264 Orphanet ID 79113 SNOMED CT ID 711543008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HUWE1	OTFH6BJS	Strong	Biomarker	[1]
EFTUD2	OT3X7QG2	Definitive	Autosomal dominant	[2]
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References

1	Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.Eur J Med Genet. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. Epub 2018 Jan 4.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.