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pectus excavatum-macrocephaly-dysplastic nails syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pectus excavatum-macrocephaly-dysplastic nails syndrome

MONDO:0010883

Also known as:Zori-Stalker-Williams syndromefamilial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nailspectus excavatum, macrocephaly and dysplastic nails

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Global developmental delay and Short stature; and common findings: Macrocephaly and Broad forehead. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Macrocephaly, Abnormality of the face

Diagnosis

Biomarker and diagnostic research for pectus excavatum-macrocephaly-dysplastic nails syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pectus excavatum-macrocephaly-dysplastic nails syndrome.

157 publications have been identified in PubMed for pectus excavatum-macrocephaly-dysplastic nails syndrome. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	98	62%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600399

Orphanet

European rare disease database

Orphanet:2835

GARD

Genetic and Rare Diseases Info Center

GARD:374

Questions for Your Care Team

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pectus excavatum-macrocephaly-dysplastic nails syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pectus excavatum-macrocephaly-dysplastic nails syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications