Orphanet: Trichorhinophalangeal syndrome type 1 and 3
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Trichorhinophalangeal syndrome type 1 and 3

Disease definition

A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.

ORPHA:77258

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 190350  190351
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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