Living with Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
A very rare inherited condition with short height, a small head, darker skin patches, and extra heartbeats.
Understanding Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
It is seen in newborns. Features include a small head, borderline intellectual disability, patches of darker skin, short stature, and extra beats from the lower heart chambers. Fainting caused by the heart may also occur. GARD notes no further reports since 1975.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Unusually small head (microcephaly)
- Extra heartbeats (premature ventricular contractions)
- Heart block
- Patches of darker skin
- Wide-set eyes (hypertelorism)
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, brain and nervous system 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.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
Changes in genes cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: char-douglas-dungan syndrome; extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly
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 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome.
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