Hypertelorism and Tetralogy of Fallot

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number


Mode of Inheritance

Autosomal recessive


Hypertelorism and tetralogy of Fallot is a very rare autosomal recessive disorder distinguished through wide set of eyes, heart defect, tetralogy of Fallot, and mild retardation. It can be tested through home medical testing such as blood pressure examination, heart tests, cholesterol analysis, and eye checkups. Medical diseases that are related to hypertelorism and tetralogy of Fallot include heart defects, chest conditions, eye and vision deficiencies, head defects, circulatory system anomalies, congenital deficiencies-physical conditions, and congenital abnormalities.

Epidemiology in the Arab World

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Farag and Teebi (1990) described three brothers suffering from hypertelorism, hypospadias, and tetralogy of Fallot. They were born to Arab first cousins once removed and their father suffered from evident hypertelorism. A paternal uncle who was described as normal was married to a second cousin and had a daughter with hypertelorism and tetralogy of Fallot. The four patients (3 male sibs and a female cousin) demonstrated early cyanosis, feeding problems, hypertelorism, epicanthic folds, narrow palpebral fissures, flat nasal bridge, dysmorphic pinna, hypospadias, tetralogy of Fallot, further cardiac defects, and mild mental retardation. Farag and Teebi (1990) proposed that the combination of abnormalities might have symbolized a formerly un-described autosomal recessive disease.

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