trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Findings
No curated finding names trichomegaly-retina pigmentary degeneration-dwarfism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010152), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 6 of 6 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- Chorioretinal atrophyHPOHP:0000533
- 7 of 7 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
Show the remaining 27
- Pes cavusHPOHP:0001761
- 1 of 1 reported patient
- Pigmentary retinopathyHPOHP:0000580
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 7 of 7 reported patients
- Reduced circulating prolactin concentrationHPOHP:0008202
- 1 of 1 reported patient
- Retinal degenerationHPOHP:0000546
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA6HGNC:16268
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Also called
- long eyelashes-intellectual disability syndromeOliver-McFarlane syndrome