Wiedemann-Steiner Syndrome

Alternative Names

  • WDSTS
  • Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

605130

Mode of Inheritance

Autosomal dominant

Gene Map Locus

11q23.3

Description

Wiedemann-Steiner syndrome is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, wide nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
147920.2LebanonMale Microcephaly; Hypotonia; Global develo...NM_001197104.1:c.2627_2630delGAGAHeterozygousAutosomal, DominantNair et al. 2018
605130.1United Arab EmiratesFemaleYesNo Intellectual disability; Attention defic...NM_001197104.1:c.10881_10884delHeterozygousAutosomal, DominantSaleh et al. 2021 Affected father and ...
605130.2United Arab EmiratesMaleNoNo Short stature; Abnormal facial shape; De...NM_001197104.1:c.5239C>THeterozygousSaleh et al. 2021 de novo mutation
605130.3Saudi ArabiaFemale Microcephaly; Global developmental delay...NM_001197104.2:c.3790C>THeterozygousAutosomal, DominantMonies et al. 2017
605130.4Saudi ArabiaFemale Skeletal dysplasia; Rib fusion; Abnormal...NM_001197104.2:c.3248G>AHeterozygousAutosomal, DominantMonies et al. 2017
605130.5Saudi ArabiaFemaleNoNo Microcephaly; Global developmental delay...NM_001197104.2:c.3094G>THeterozygousAutosomal, DominantMonies et al. 2017 Patient's parents ar...
605130.6Saudi ArabiaMale Seizure; Intellectual disability; Delaye...NM_001197104.2:c.8842A>CHeterozygousAutosomal, DominantMonies et al. 2017
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