Oliver–McFarlane syndrome
MeSH: C536554ORPHA: 3363
Overview
autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Oliver–McFarlane syndrome, sourced from HPO and Orphanet clinical annotations.
Retinal degenerationHypogonadismLong eyelashesPigmentary retinopathyHypothyroidismDecreased response to growth hormone stimulation testIntellectual disabilityAtaxiaGrowth delaySmall for gestational ageAlopeciaDelayed skeletal maturationNeonatal hyperbilirubinemiaSparse hairPeripheral neuropathyCryptorchidismMicropenisAbnormality of the dentitionMyopiaFrontal bossingMicrocephalySeizure
Classification & Codes
MeSH Code
C536554Orphanet Code
ORPHA:3363Oliver–McFarlane syndrome
| MeSH | C536554 |
| Orphanet | ORPHA:3363 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO