Amelia - Anorectal and Genital Atresia

What is Amelia - Anorectal and Genital Atresia?

Amelia - Anorectal and Genital Atresia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

A single case reported by Ghosh and Gupta (2004) had an absent lower limb, and no anal, urinary or genital openings. There was severe scoliosis, non-visualization of one kidney, and a rudimentary bladder, rectum and lower colon. See under Rosenak (1991), for someting similar or the same.
Raveenthiran (2007) reported, briefly, a child with hypospadias, impalpable testes, anorectal agenesis and an absent lower limb. The testis on 1 side was found in a spigelian hernia.

* This information is courtesy of the L M D.

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What gene changes cause Amelia - Anorectal and Genital Atresia?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Amelia - Anorectal and Genital Atresia?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for Amelia - Anorectal and Genital Atresia?

The initial testing for Amelia - Anorectal and Genital Atresia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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