Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Orpha code: 3363OMIM code: 275400

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.

Disease data
Classification

Malformation syndrome

Synonyms
Long eyelashes-intellectual disability syndrome
Długie rzęsy - niepełnosprawność intelektualna
Zespół Olivera i McFarlane'a
Oliver-McFarlane syndrome
ORPHA code
3363
OMIM code
275400
ICD10 code
Q87.1
ICD11 code
LD27.0Y

No additional description.

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