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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Disease definition

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


Classification level: Disorder
  • Synonym(s):
    • Long eyelashes-intellectual disability syndrome
    • Oliver-McFarlane syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • ICD-11: LD27.0Y
  • OMIM: 275400
  • UMLS: C1848745
  • MeSH: -
  • GARD: 5266
  • MedDRA: -

Detailed information

Disease review articles

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