Coloboma of macula with type B brachydactyly
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1471
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 (see these terms). 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; see this term), 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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Triangular epiphysis of the proximal phalanx of the 2nd finger |
| Chorioretinal coloboma |
| Short distal phalanx of finger |
| Type B brachydactyly |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Absent fingernail |
| Broad thumb |
| Sparse eyebrow |
| Fingernail dysplasia |
| Camptodactyly of finger |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Abnormality of the nares |
| Short stature |
| Renal agenesis |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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