Al-Gazali Syndrome

Alternative Names

  • Multiple Skeletal Abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality
  • Al-Gazali Al-Talabani Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

609465

Mode of Inheritance

Autosomal recessive

Description

Patients with Al-Gazali syndrome are characterized by anterior segment anomalies of the eye, clefting, skeletal abnormalities, and early lethality. In addition, patients may exhibit joint contractures.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609465.1.1PalestineFemaleYesYes Congenital contracture; Abnormal anter...NM_080605.4:c.618C>GHomozygousAutosomal, RecessiveAl-Gazali et al. 1999; Ben-Mahmoud et al. 2018 Similarly affected d...
609465.1.2PalestineMaleYesYes Congenital contracture; Abnormal anter...NM_080605.4:c.618C>GHomozygousAutosomal, RecessiveAl-Gazali et al. 1999; Ben-Mahmoud et al. 2018 Sibling of 609465.1....

Other Reports

Sudan

Al-Gazali et al. (1994) reported two sibs, born to consanguineous Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and early lethality. Al Gazali et al. (1994) concluded that the constellation of anomalies may represent a previously undescribed syndrome with some similarities to Michels syndrome from which it should be differentiated.

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