Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly

What is Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly?

Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Al-Gazali and Bakalinova (1998) reported four affected children from two sibships in an inbred Omani family with an unusual form of multiple epiphyseal dysplasia. All the children had macrocephaly and brain imaging showed some frontal atrophy. The face was said to be characteristic with frontal bossing, hypertelorism, flat malar regions, and a short neck. Three of the children had mild developmental delay.
Radiographs showed flattening of multiple epiphyses of the long bones and mild flaring of the metaphyses. Short stature did not seem to be part of the condition, and two of the children had lymphoedema of the hands and legs.
Bayoumi et al., (2001), mapped the gene to 15q26.

* This information is courtesy of the L M D.

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What gene changes cause Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly?

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 Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly?

The typical symptoms of the syndrome are:

How does someone get tested for Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly?

The initial testing for Al-Gazali-Bakalinova - Multiple Epiphyseal Dysplasia-Oedema-Lacocephaly 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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