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Rosselli–Gulienetti syndrome

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Rosselli–Gulienetti syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner[1]

Rosselli–Gulienetti syndrome,[2] also known as Zlotogora–Ogur syndrome[3] and Bowen–Armstrong syndrome,[4] is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare[5] and has only been described in a few cases.

Signs and symptoms

There is a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance,[5] and caused by a mutation affecting the TP63 gene.[6] It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease.[7]

Cause

Diagnosis

Treatment

There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable.[4]

References

External links

Classification
External resources
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