Myhre Syndrome

Alternative Names

  • MYHRS
  • Growth-Mental Deficiency Syndrome of Myhre
  • Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature
  • LAPS Syndrome

Associated Genes

SMAD Family Member 4
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

139210

Mode of Inheritance

Autosomal dominant

Gene Map Locus

18q21.2

Description

Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria, and cardiovascular defects with a striking fibroproliferative response to surgical intervention. All reported cases have been sporadic. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
139210.1United Arab EmiratesFemaleNoYes Global developmental delay; Complete atr...NM_005359.5:c.116_125delHeterozygousSaleh et al. 2021 de novo mutation
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