Sakati-Nyhan-Tisdale syndrome

Sakati-Nyhan-Tisdale Syndrome,cite web | title = Sakati-Nyhan-Tisdale Syndrome Information | publisher = Ole Daniel Enersen | url = http://www.whonamedit.com/synd.cfm/2176.html] also called acrocephalopolysyndactyly type III, is a rare genetic disorder that has been associated with abnormalities in the bones of the legs, congenital heart defects and craniofacial defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.cite web | title = Sakati Syndrome Information Guide | publisher = WebMD | url = http://children.webmd.com/sakati-syndrome]

Eponym

The disease was named after a female Syrian pediatrician named Nadia Awni Sakaticite web | title = Nadia Awni Sakati Medical profile | author = Patrick Jucker-Kupper | publisher = Ole Daniel Enersen | url = http://www.whonamedit.com/doctor.cfm/1956.html] and her two American counterparts, William Leo Nyhancite web | title = William Leo Nyhan Medical profile | author = Günter Krämer | publisher = Ole Daniel Enersen | url = http://www.whonamedit.com/doctor.cfm/1957.html] and W.K. Tisdale,cite web | title = W.K. Tisdale Medical profile | publisher = Ole Daniel Enersen | url = http://www.whonamedit.com/doctor.cfm/1958.html] who were working alongside with her in the pediatrics department at University of California, San Diego.

It was characterized in 1971.cite journal |author=Sakati N, Nyhan WL, Tisdale WK |title=A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs |journal=J. Pediatr. |volume=79 |issue=1 |pages=104–9 |year=1971 |pmid=4253694 |doi=] [WhoNamedIt|synd|2176]

Presentation

The syndrome was first reported in an eight-year old boy, but very few cases have been reported since then. The syndrome is detected by multiple abnormalities noted at birth involving the head, limbs, heart, ears, and skin. The syndrome is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis. As documented in the first case of the syndrome, the victim tends to suffer from cyanosis, and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance from other individuals, such as learning to walk with special crutches by five years of age. Craniofacial problems are present, but have no effect on the patient's intelligence and mental growth.

Most problems resulting from the syndrome are physical. It causes Acrocephaly, making the head appear pointed, and webbing or syndactyly of certain toes or fingers.cite web | title = Sakati Syndrome Information | publisher = British Columbia Ministry of Health | url = http://www.bchealthguide.org/kbase/nord/nord1013.htm]

Causes

Although no cause has been officially confirmed, researchers speculate the disease might result from a genetic mutation that sporadically occurs for unknown reasons.

References