Living with Pectus excavatum-macrocephaly-dysplastic nails syndrome
A rare condition from birth with a sunken chest, large head, short height, and poorly formed nails.
Understanding Pectus excavatum-macrocephaly-dysplastic nails syndrome
Features include a sunken chest (pectus excavatum), a relatively large head, short height, and nail changes. Delays in motor skills are present early but go away during childhood. GARD notes there have been no further descriptions in the medical literature since 1992.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head (macrocephaly)
- Short height
- Broad forehead
- Delays in development (motor delay that resolves in childhood)
- Sunken chest (funnel chest)
- Poorly formed nails
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 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
- 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 the genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Also known as: familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails; pectus excavatum, macrocephaly and dysplastic nails; zori stalker williams syndrome; zori-stalker-williams syndrome
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 Pectus excavatum-macrocephaly-dysplastic nails syndrome.
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