coloboma of macula-brachydactyly type B syndrome
Findings
No curated finding names coloboma of macula-brachydactyly type B syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.
Definition from the Mondo Disease Ontology (MONDO:0007353), 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
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Type B brachydactylyHPOHP:0005831
- Very frequent (80% to 99% of cases)
- Absent fingernailHPOHP:0001817
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Fingernail dysplasia
Where it sits
- A kind of
Other names
1 name
Resolves to: coloboma of macula-brachydactyly type B syndrome
- Also called
- Sorsby syndrome