pectus excavatum-macrocephaly-dysplastic nails syndrome
Findings
No curated finding names pectus excavatum-macrocephaly-dysplastic nails syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Definition from the Mondo Disease Ontology (MONDO:0010883), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Abnormality of the faceHPOHP:0000271
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Hypoplasia of the zygomatic bone
Show the remaining 3
- Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- Occasional (5% to 29% of cases)
- Short noseHPOHP:0003196
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: pectus excavatum-macrocephaly-dysplastic nails syndrome
- Also called
- Zori-Stalker-Williams syndrome