short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Findings
No curated finding names short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
Definition from the Mondo Disease Ontology (MONDO:0013894), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Broad nasal tipHPOHP:0000455
- 5 of 5 reported patients
- High foreheadHPOHP:0000348
- 5 of 5 reported patients
- HypertelorismHPOHP:0000316
- 5 of 5 reported patients
- Long philtrumHPOHP:0000343
- 5 of 5 reported patients
- Low-set earsHPOHP:0000369
- 5 of 5 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 5 of 5 reported patients
- RhizomeliaHPOHP:0008905
Show the remaining 4
- Global developmental delayHPOHP:0001263
- 2 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- Low hanging columellaHPOHP:0009765
- 1 of 5 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POC1AHGNC:24488
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Also called
- soft syndrome