Weaver syndrome

Weaver syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB =
ICD10 = ICD10|Q|87|3|q|80
ICD9 =
ICDO =
OMIM = 277590
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974. [cite journal |author=Weaver DD, Graham CB, Thomas IT, Smith DW |title=A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly |journal=J. Pediatr. |volume=84 |issue=4 |pages=547–52 |year=1974 |pmid=4366187 |doi=]

It can be associated with NSD1. [cite journal |author=Douglas J, Hanks S, Temple IK, "et al" |title=NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes |journal=Am. J. Hum. Genet. |volume=72 |issue=1 |pages=132–43 |year=2003 |pmid=12464997 |doi=]

References


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Syndrome de Sotos — Référence MIM 117550 Transmission Dominante Chromosome 5q35 Gène NSD1 Empreinte parentale Non …   Wikipédia en Français

  • Syndrome de sotos — Autre nom Gigantisme cérébral Référence MIM …   Wikipédia en Français

  • weaver — weaver. Hейрологическая мутация, обусловливающая нарушение развития гранулярных клеток мозжечка и атаксию у мыши (аллель wv локализован на участке хромосомы 16, гомологичном участку хромосомы 21 человека, не исключено, что гомологичная мутация… …   Молекулярная биология и генетика. Толковый словарь.

  • Marshall-Smith syndrome — Discovered in 1971 (Marshall, Graham, Scott, Boner, Smith). Marshall Smith Syndrome is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory… …   Wikipedia

  • Marshall–Smith syndrome — Marshall Smith syndrome Classification and external resources ICD 10 GroupMajor.minor ICD 9 xxx …   Wikipedia

  • Sotos syndrome — Classification and external resources ICD 10 Q87.3 ICD …   Wikipedia

  • Overgrowth syndrome — is a group of genetic disorders in which there is an abnormal increase in the size of the body or a body part that is often noted at birth. Examples of overgrowth syndromes include neurofibromatosis, Sotos syndrome, Beckwith Wiedemann syndrome,… …   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

  • 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

Share the article and excerpts

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