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: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2007) Italiano (2007)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.