Amelia, Autosomal Recessive

What is Amelia, Autosomal Recessive?

Amelia, Autosomal Recessive is a rare disease. It is also known as Amelia - upper limb.

Michaud et al., (1995) reported three sibs who were all detected by 20 weeks of pregnancy with limb abnormalities. All had absent arms, and there was variable deficiency of the lower limbs. These were either completely absent, or there was a terminal transverse defect through the femur. There were said to be mild facial dysmorphic features with a depressed nasal root, infraorbital creases, prominent cheeks and micrognathia. The condition was not thought to overlap with other genetically determined amelia syndromes such as Ohdo (1987), Rosenak (1991), Yim (1982), or Zimmer (1985) (qv).
Froster-Iskenius and Baird (1990) calculated the incidence of amelia in British Colombia to be 0.15 per 10,000 births. Martinez-Frias et al., (1997) found a similar incidence in Spain. Rijhsinghani et al., (1995) reported three cases diagnosed prenatally. Some of the cases did not have strict amelia but more terminal transverse defects.
A fetus, with upper limb amelia and nuchal translucency was reported by Bianca et al., (2009). A post-mortem revealed no additional abnormalities
Note the case reported by Al Riyami et al., (2012) with absence (except of the right humerus) of arms and legs. A typical case was reported by Gambhir (2014).

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* This information is courtesy of the L M D.

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What gene changes cause Amelia, Autosomal Recessive?

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

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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.

OMIM Number - 601360 (please check the OMIM page for updated information)

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

What are the main symptoms of Amelia, Autosomal Recessive?

The typical symptoms of the syndrome are:
Cryptorchidism, Scrotal hypoplasia, Non-midline cleft lip, Autosomal recessive inheritance, Micrognathia, Hypoplasia of penis, Abnormal cardiac septum morphology, Abnormality of limb bone morphology, Amelia, Polyhydramnios, Aplasia/Hypoplasia of the lungs

How does someone get tested for Amelia, Autosomal Recessive?

The initial testing for Amelia, Autosomal Recessive 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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