Sakati-Nyhan-Tisdale syndrome

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


Wikimedia Foundation. 2010.

Игры ⚽ Нужно решить контрольную?

Look at other dictionaries:

  • Nyhan — may refer to: Brendan Nyhan (born 1978), an American liberal to moderate political blogger, author, and political columnist David Nyhan (1940–2005), a journalist and biographer whose op ed column ran in The Boston Globe newspaper for many years… …   Wikipedia

  • William Nyhan — Dr. William Nyhan, M.D., PH.D., UCSD School of Medicine, La Jolla, California Born March 13, 1926 (1926 03 13) (age 85) United S …   Wikipedia

  • Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti …   Wikipedia

  • Adducted thumb syndrome — Classification and external resources OMIM 201550 DiseasesDB 31689 Adducted thumb syndrome recessive form, also known as Christian syndrome or …   Wikipedia

  • Möbius syndrome — Classification and external resources A child with oromandibular limb hypogenesis Möbius syndrome. Notice the expressionless face (due to bilateral VII nerve palsies) and missing fingers. ICD …   Wikipedia

  • Donohue syndrome — Classification and external resources insulin receptor OMIM 246200 …   Wikipedia

  • Noonan syndrome — Classification and external resources A 12 year old female with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. ICD 10 Q …   Wikipedia

  • Zellweger syndrome — Classification and external resources ICD 10 Q87.8 ICD 9 277.86 …   Wikipedia

  • POEMS syndrome — Classification and external resources DiseasesDB 29226 eMedicine derm/771 …   Wikipedia

  • Cockayne syndrome — Classification and external resources ICD 10 Q87.1 (ILDS Q87.110) ICD 9 759.8 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”