Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder

What is Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder?

Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Abdul Wahab et al., (2003) reported 32 patients from a large inbred kindred from Qatar. There were 6 affected pairs of siblings and 2 families with 3 affected siblings. The male to female ratio was 2:1. There was a variable degree of skin hyperextensibility, joint hypermobility and tortuous systemic arteries. Facial features included epicanthic folds, flat saggy cheeks, elongated faces and micrognathia. An elongated aortic arch and tortuous brachiocephalic arteries were seen in 30 patients (93.8%), aneurysm of the ascending aorta in 3 patients (9.4%), bifid pulmonary artery in 27 patients (84.4%) and multiple severe peripheral stenosis of the right and/or left pulmonary artery in 7 patients (21.9%). A prominent aortic knuckle was observed on the chest roentgenograms of 30 patients (93.8%); inguinal hernia in 11 patients (34%), diaphragmatic hernia and/or hiatus hernia in 7 patients (21.9%); and laryngo-tracheomalacia in 2 patients (6.3%). Generalized muscle hypotonia was found in 15 neonates (46.9%). Linkage to the major loci involved in Ehlers-Danlos syndrome, Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was excluded.

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* This information is courtesy of the L M D.

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What gene changes cause Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder?

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.

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

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 Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder?

The typical symptoms of the syndrome are:

How does someone get tested for Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder?

The initial testing for Abdul Wahab (2003) - Ehlers-Danlos IV Like Disorder 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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