Living with Thumb deformity-alopecia-pigmentation anomaly syndrome
A very rare genetic condition with short stature, thin scalp hair, thumb differences, and skin color changes.
Understanding Thumb deformity-alopecia-pigmentation anomaly syndrome
People have short stature, sparse scalp hair, small thumbs set close to the wrist, and darker skin with small 'raindrop' lighter spots. A single upper front tooth has also been reported. It is noticed in the newborn period or infancy. GARD says there have been no further descriptions in the medical literature since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Hair loss (alopecia)
- Thumb differences (finger-like thumb)
- Patchy darker and lighter skin
- Fingernail changes
- Global developmental delay and intellectual disability
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: sparse hair-short stature-skin anomalies syndrome; sparse hair, short stature, skin anomalies syndrome; thumb deformity and alopecia; thumb deformity, alopecia, pigmentation anomaly syndrome
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 Thumb deformity-alopecia-pigmentation anomaly syndrome.
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