nonsyndromic congenital nail disorder 4
Findings
No curated finding names nonsyndromic congenital nail disorder 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
Definition from the Mondo Disease Ontology (MONDO:0008798), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- AnonychiaHPOHP:0001798
- 4 of 4 reported patients · Congenital onset
- Growth abnormalityHPOHP:0001507
- 0 of 4 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.
- RSPO4HGNC:16175
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: nonsyndromic congenital nail disorder 4
- Also called
- isolated congenital anonychia caused by mutation in RSPO4nail disorder, nonsyndromic congenital, type 4nonsyndromic congenital nail disorder type 4RSPO4 isolated congenital anonychia