Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney

What is Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney?

Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Barakat et al., (1996) reported a 14 year old boy who they suggested had Hajdu-Cheney syndrome, but the clinical features were not really consistent. He was the offspring of first cousin Saudi Arabian parents. At birth he was noted to have polydactyly (the position of the extra finger was not stated), growth retardation and micrognathia. Height was below the 5th centile. He had prominent and protruding ears, and micrognathia. There was severe enamel hypoplasia with absent molars and lateral incisors. There was severe myopia and a pale optic disc was noted. Radiographs showed 13 ribs, a severe thoracolumbar scoliosis, Wormian bones, absent frontal sinuses and generalised osteopenia. There was no acroosteolysis. The kidneys were small and progressive renal failure was noted from 7 years.

* This information is courtesy of the L M D.

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What gene changes cause Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney?

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.

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

What are the main symptoms of Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney?

The typical symptoms of the syndrome are:

How does someone get tested for Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney?

The initial testing for Barakat (1996) - Polydactyly - Osteopenia - Hypoplastic Kidney 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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