preaxial polydactyly-colobomata-intellectual disability syndrome
Findings
No curated finding names preaxial polydactyly-colobomata-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0017377), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Preaxial polydactylyHPOHP:0100258
- Frequent (30% to 79% of cases)
- Retinal colobomaHPOHP:0000480
- Frequent (30% to 79% of cases)
- Angle closure glaucomaHPOHP:0012109
- Occasional (5% to 29% of cases)
- Moderately reduced visual acuity
Where it sits
Other names
1 name
Resolves to: preaxial polydactyly-colobomata-intellectual disability syndrome
- Also called
- Pfeiffer-Mayer syndrome