LP208600-9

Chromosome region 8q23.3-24.13

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Description

Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II (TRPS2), involves the loss of functional copies of both the TRPS1 and EXT1 genes. TRPS2 combines the clinical features of trichorhinophalangeal syndrome type I, caused by mutations in the TRPS1 gene on chromosome 8q23.3, and multiple exostoses type I, caused by mutations in the EXT1 gene on chromosome 8q24.11. TRPS2 is associated with multiple dysmorphic facial features including laterally protruding ears, a bulbous nose, elongated upper lip, sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and various degrees of mental retardation, speech delay and hearing loss. [OMIM: 150230] Source: Regenstrief LOINC ,

Basic Part Properties

Part Name

Chromosome region 8q23.3-24.13

Part Display Name

Chromosome region 8q23.3-24.13

Part Type

Component (Describes the core component or analyte measured)

Created On

2016-03-29

Construct for LOINC Short Name

Chr 8q23.3-24.13

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