Living with Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
An extremely rare genetic condition (Oliver-McFarlane syndrome) with long eyelashes, vision loss from the retina, and short stature.
Understanding Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
It involves hair differences, severe damage to the back of the eye (chorioretinal atrophy), low levels of pituitary hormones (hypopituitarism), short stature, and intellectual disability. It is noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long eyelashes (trichomegaly)
- Retina degeneration and vision problems
- Short stature and slow growth
- Intellectual disability
- Low activity of the sex glands (hypogonadism)
- Underactive thyroid (hypothyroidism)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PNPLA6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PNPLA6 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: eyelashes long mental retardation; long eyelashes-intellectual disability syndrome; oliver mcfarlane syndrome; oliver-mcfarlane syndrome; omcs; trichomegaly retina pigmentary degeneration dwarfism
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trichomegaly-retina pigmentary degeneration-dwarfism syndrome.
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