Otopalatodigital Syndrome, Type I

Alternative Names

  • OPD1
  • OPD I Sydrome
  • OPD Syndrome 1

Associated Genes

Filamin A
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

311300

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xq28

Description

Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene that constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
311300.1LebanonFemaleNo Prominent supraorbital ridges; High pala...NM_001110556.1:c.2411T>AHeterozygousX-linked, DominantMoutton et al. 2016 de novo mutation

Other Reports

Lebanon

Zaytoun et al (2002) descried four patients with Otopalatodigital syndrome. All four were born to consanguineous parents. Three of the patients were siblings, while the fourth was unrelated. The patients expressed a wide range of variation in their clinical expressions of the syndrome.

© CAGS 2024. All rights reserved.