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short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

MONDO:0013894

Also known as:soft syndromeshort stature, onychodysplasia, facial dysmorphism, and hypotrichosissoft

Overview

Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.

GeneticsAutosomal recessive · POC1A (chr 3)

OnsetADULT, CONGENITAL, CHILDHOOD

ResearchLimited published research (2 articles)

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 always present findings: Long philtrum, Short foot, Rhizomelia, and Hypertelorism and others; and common findings: Failure to thrive and Global developmental delay. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Macrocephaly, Microcephaly, Long face

Genetic Landscape

POC1A function has not been fully characterized.

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is associated with mutations in the POC1A gene on chromosome 3.

Diagnosis

Genetic testing for POC1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present 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 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.

2 publications have been identified in PubMed for short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Altunoglu U (2025). [PMID: 39662966](https://pubmed.ncbi.nlm.nih.gov/39662966/). *Clin Genet*. [Review / Meta-Analysis]
Perge K (2024). [PMID: 39017987](https://pubmed.ncbi.nlm.nih.gov/39017987/). *Rev Endocr Metab Disord*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 1:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614813

Orphanet

European rare disease database

Orphanet:314394

GARD

Genetic and Rare Diseases Info Center

GARD:17419

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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