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tricho-rhino-phalangeal syndrome type 3
Genetics:
- autosomal dominant disorder
- associated with defects in TRPS1
- allelic with tricho-rhino-phalangeal syndrome type 1 Clinical abnormalities:
- craniofacial & skeletal abnormalities
- typical features include
- sparse scalp hair
- a bulbous tip of the nose
- protruding ears
- a long flat philtrum
- a thin upper vermilion border
- skeletal defects include
- cone-shaped epiphyses at the phalanges
- hip malformations
- short stature
- more severe brachydactyly & growth retardation than tricho-rhino-phalangeal syndrome type 1
General
tricho-rhino-phalangeal syndrome
Database Correlations
OMIM 190351
References
OMIM :accession 190351