tricho-rhino-phalangeal syndrome type 2

(redirected from chromosome 8q24.1 deletion syndrome)

tricho-rhino-phalangeal syndrome type 2

A hereditary condition (OMIM:150230) with features of both tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1, and which is characterised by multiple dysmorphic facial features (e.g., large, laterally protruding ears, a bulbous nose, an elongated upper lip and sparse scalp hair), winged scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation.

Molecular pathology
Defects of TRPS1 and EXT1 are present in tricho-rhino-phalangeal syndrome type 2.
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