aplasia cutis congenita
Findings
No curated finding names aplasia cutis congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
Definition from the Mondo Disease Ontology (MONDO:0007145), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Aplasia cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenita over the scalp vertexHPOHP:0004471
- Very frequent (80% to 99% of cases)
- Calvarial skull defectHPOHP:0001362
- Very frequent (80% to 99% of cases)
- Congenital localized absence of skinHPOHP:0007383
- Very frequent (80% to 99% of cases)
- Spinal dysraphismHPOHP:0010301
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Frequent (30% to 79% of cases)
Show the remaining 1
- Toe syndactylyHPOHP:0001770
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
- BMS1HGNC:23505
- Strong · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- DLL4HGNC:2910
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGB4HGNC:6158
- Supportive · Orphanet · Autosomal dominant · 2021
- PLECHGNC:9069
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: aplasia cutis congenita
- Also called
- aplasia cutis congenita (disease)aplasia cutis congenita recessive