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 ?
THE 17-YEAR-OLD HAS POTOCKI-SHAFFER SYNDROME - WHICH AFFECTS THE DEVELOPMENT OF HIS BONES, BRAIN AND OTHER ORGANS.
The DWP has been involved in protracted court action to compel Mr Rutherford, from Clunderwen, to pay bedroom tax on a room used for medical equipment and a bed for respite carer, grandson Warren Todd, who is one of only 100 known cases of Potocki-Shaffer syndrome in the world.
The DWP has been involved in protracted court action to compel Mr Rutherford, from Clunderwen, to pay bedroom tax on a room used for medical equipment and a bed for a respite carer for grandson Warren Todd, who is one of only 100 known cases of Potocki-Shaffer syndrome in the world.
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.
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 is one of only 100 known cases of Potocki-Shaffer syndrome in the world.
Warren has Potocki-Shaffer syndrome, a rare genetic disorder which also means he is incontinent.