aplasia cutis-myopia syndrome
MONDO:0010988Mondo
Findings
No curated finding names aplasia cutis-myopia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0010988), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- Calvarial skull defectHPOHP:0001362
- Very frequent (80% to 99% of cases)
- Congenital nystagmusHPOHP:0006934
- Very frequent (80% to 99% of cases)
- High myopiaHPOHP:0011003
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Abnormal nervous system morphologyHPOHP:0012639
- Occasional (5% to 29% of cases)
- Abnormality of coagulationHPOHP:0001928
- Occasional (5% to 29% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- MeningitisHPOHP:0001287
- Occasional (5% to 29% of cases)
- Skin ulcerHPOHP:0200042
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: aplasia cutis-myopia syndrome
- Also called
- aplasia cutis myopiaGershoni-Baruch-Leibo syndrome