Living with Terminal osseous dysplasia-pigmentary defects syndrome
A genetic condition that affects the bones of the hands and feet and causes skin color spots on the face and scalp.
Understanding Terminal osseous dysplasia-pigmentary defects syndrome
People with this condition have differently shaped hands and feet, darker patches or bumps on the skin of the face and scalp, and growths of fibrous tissue on the fingers or toes (digital fibromatosis). Signs usually appear in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short fingers or toes (brachydactyly)
- Fingers that curve permanently (clinodactyly)
- Joints that cannot fully straighten (flexion contracture)
- Darker raised skin spots (hyperpigmented papules)
- Hair loss (alopecia)
- Fibrous growths on the fingers or toes (digital fibromatosis)
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 bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FLNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 FLNA gene. It is X-linked, which means the gene is on the X chromosome.
Also known as: odpd; odpf syndrome; osseous dysplasia, digital, with facial pigmentary defects and multiple frenula; terminal osseous dysplasia and pigmentary defects; terminal osseous dysplasia, x-linked dominant
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Terminal osseous dysplasia-pigmentary defects syndrome.
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