Orofaciodigital Syndrome XIV

Alternative Names

  • OFD14
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615948

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q13.4

Description

Orofaciodigital syndrome is a rare congenital malformation characterised by anomalies such as microretrognathia, cleft/lobulated tongue, cleft palate, lingual hamartoma and postaxial polydactyly of the hands. OFD14, a subtype of orofaciodigital syndrome, also presents with severe intellectual disability and microcephaly as well as vermian hypoplasia with the molar tooth sign on brain imaging studies.  

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615948.1.1LebanonMaleYesYes Microcephaly; Abnormal facial shape; ...NM_001286577.1:c.184C>THomozygousAutosomal, RecessiveThauvin-Robinet et al, 2014 Proband
615948.1.2LebanonFemaleYesYes Microcephaly; Abnormal facial shape;...NM_001286577.1:c.184C>THomozygousAutosomal, RecessiveThauvin-Robinet et al, 2014 Sister of 615948.1.1
615948.2.1PalestineFemaleYesNo Short long bone; Polydactyly; Renal cy...NM_001286577.1:c.1429del, NM_001286577.1:c.195G>CHeterozygousAutosomal, RecessiveCortés et al, 2016 20 weeks old fetus
615948.2.2PalestineMaleYesNo Short long bone; Polydactyly; Renal ...NM_001286577.1:c.1429del, NM_001286577.1:c.195G>CHeterozygousAutosomal, RecessiveCortés et al, 2016 Brother of 615948.2....
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