Hypoglossia with Situs Inversus

Alternative Names

  • Hypoglossia, Isolated
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

612776

Mode of Inheritance

Isolated cases

Description

Hypoglossia with situs inversus is a very rare congenital malformation involving a partial to total absence of the tongue along with situs inverses which is a medical term for organs which are located on the wrong side of the body such as: heart on the right side of the body and liver on the left side of the body. The prevalence of this condition is unknown.

Molecular Genetics

The exact genetic cause of hypoglossia with situs inversus is still unknown.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Faqeih et al. (2008) described a 2-year old male with micrognathia, aglossia and situs inversus with other deformities from Saudi Arabia. He was born to non consanguineous parents and had four siblings. At birth, he presented with a small oral cavity and tongue. At the age of 10-months, his weight, length, and head circumference were below the 3rd percentiles. He had a prominent metopic suture, long and smooth philtrum, small mandible and severe micrognathia. He had large and low-set ears, small mouth and oral cavity, high and narrow palatal arch and a rudimentary tongue. The lower alveolar ridge was prominent. He had right-sided apex beat, but there were no murmurs. He was hypotonic with normal reflexes, and had hypoplastic mandible, situs inversus totalis, and polysplenia.

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