/trichomegaly-retina pigmentary degeneration-dwarfism syndrome

trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Rare Disease

MONDO:0010152

Also Known As

Oliver-McFarlane syndromelong eyelashes-intellectual disability syndromeOMCSOliver McFarlane syndromeeyelashes, long with intellectual disabilityeyelashes, long, with intellectual disabilityeyelashes, long, with mental retardationtrichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retinatrichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retinatrichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina

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.