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Trichorhinophalangeal syndrome type II
rareLanger-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
- Identifiers
- MONDO:0007874 OMIM:150230Orphanet:502
- Part of
- Autosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 8Trichorhinophalangeal syndrome
- Also known as
- deletion 8q24.1 · Giedion-Langer syndrome · Langer Giedion syndrome · Langer-Giedion syndrome · monosomy 8q24.1
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