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Holt-Oram syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Holt-Oram syndrome
Unique ID
C535326
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535326
Entry Term(s)
Atrio-Digital Syndrome
Atriodigital dysplasia
Cardiac-Limb Syndrome
Cervico-Oculo-Acoustic Syndrome
Heart-Hand Syndrome, Type 1
Heart-hand syndrome
Ventriculo-Radial Syndrome
Wildervanck syndrome
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
*Heart Defects, Congenital
*Heart Septal Defects, Atrial
*Lower Extremity Deformities, Congenital
*Upper Extremity Deformities, Congenital
Frequency
103
Note
A genetic condition with autosomal dominant inheritance that is characterized by skeletal abnormalities of the upper limbs, particularly thumb and wrist anomalies; additional skeletal abnormalities may also be present. About 75% of those affected have heart abnormalities, notably ATRIAL SEPTAL DEFECTS and cardiac conduction defects. Mutations in the TBX5 gene have been identified. OMIM: 142900
Date of Entry
2010/08/25
Revision Date
2015/08/18
Holt-Oram syndrome Preferred
Wildervanck syndrome Related
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