Holt-Oram syndrome

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Holt-O·ram syn·drome

(hōlt ō'răm), [MIM*142900]
atrial septal defect in association with fingerlike or absent thumb and other deformities of the forearm; autosomal dominant inheritance, caused by mutation in the T-box5 gene (TBX5) on chromosome 12q.

Holt-Oram syndrome

[hōlt or′əm]
Etymology: Mary Clayton Holt, British cardiologist, 20th century; Samuel Oram, English cardiologist, b. 1913
autosomal-dominant heart disease of varying severity, usually an atrial or ventricular septal defect associated with skeletal malformation (hypoplastic thumb and short forearm). Also called heart-hand syndrome.

Holt-Oram syndrome

An autosomal dominant condition (OMIM:142900) characterised by atrial septal defect in association with finger-like or absent thumb and other deformities of the forearm.

Molecular pathology
Defects of TBX5, which encodes a DNA-binding transcription factor involved in regulating cardiac development and specification of limb identity, cause Holt-Oram syndrome.

Holt-Oram syndrome

Heart-hand syndrome Molecular cardiology An AD disorder with structural defects of the heart and upper limbs Clinical Upper limb defects may be uni- or bilateral and involve structures of the embryonic radial ray causing aplasia, hypoplasia, fusion and anomalous development of the radial, carpal and thenar bones; defects include triphalangeal or absent thumbs, foreshortened arms and phocomelia; cardiac abnormalities are variably present and are either structural–eg, single or multiple atria, VSD, or functional–eg, bradycardia, various degrees of AV block; other defects in HOS include vertebral, anal, tracheoesophageal, and renal defects

Holt,

Mary, 20th century English cardiologist.
Holt-Oram syndrome - atrial septal defect in association with fingerlike or absent thumb and other deformities of the forearm.

Oram,

Samual, 20th century English cardiologist.
Holt-Oram syndrome - see under Holt, Mary