Toriello-Lacassie-Droste syndrome
MONDO:0010854Mondo
Findings
No curated finding names Toriello-Lacassie-Droste syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.
Definition from the Mondo Disease Ontology (MONDO:0010854), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
44 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
- 2 of 2 reported patients
- Hyperpigmented streaksHPOHP:0007572
- 2 of 2 reported patients
- Preauricular skin tagHPOHP:0000384
- 2 of 2 reported patients
- Abnormal conjunctiva morphologyHPOHP:0000502
- Very frequent (80% to 99% of cases)
- Abnormal nervous system morphologyHPOHP:0012639
- Very frequent (80% to 99% of cases)
- Absent septum pellucidumHPOHP:0001331
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosum
Show the remaining 32
- Abnormality of the earHPOHP:0000598
- Frequent (30% to 79% of cases)
- Abnormality of the ureterHPOHP:0000069
- Frequent (30% to 79% of cases)
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: Toriello-Lacassie-Droste syndrome
- Also called
- aplasia cutis congenita-epibulbar dermoids syndromeoculoectodermal syndromeoculoectodermal syndrome, somatic