Pediatric Terminology

Last uploaded: January 25, 2013
Preferred Name

Saethre-Chotzen_Syndrome

Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome

ID

C75034

NCI_Definition

A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.

NCI_PT

Type III Acrocephalosyndactyly

NICHD_Definition

_

prefixIRI

Saethre-Chotzen_Syndrome

prefLabel

Saethre-Chotzen_Syndrome

Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology

SYN

Acrocephalosyndactyly Type III

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Abnormality_of_the_Musculoskeletal_System

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