Potocki-Shaffer syndrome

Potocki-Shaffer syndrome

A genetic condition, MIM601224, caused by a deletion on chromosome 11p11.2, which includes the ALX4 gene.

Clinical findings
Craniofacial anomalies, mental retardation, multiple exostoses and urogenital abnormalities in males.
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References in periodicals archive ?
Without their third bedroom they will lose their support lifeline and Warren, who has Potocki-Shaffer syndrome, will go into care with the taxpayer footing the bill.
Warren is one of only 100 known cases of Potocki-Shaffer syndrome in the world.
The researchers looked at patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities such as a small head and chin and intellectual disability, and found the gene PHF21A was mutated, said Dr.
Warren has Potocki-Shaffer syndrome, a rare genetic disorder which also means he is incontinent.