National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Coloboma of macula with type B brachydactyly


Other Names:
Apical dystrophy; Sorsby syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 11/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Short distal phalanx of finger
Short outermost finger bone
0009882
Type B brachydactyly 0005831
30%-79% of people have these symptoms
Absent fingernail 0001817
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Camptodactyly of finger
Permanent flexion of the finger
0100490
Fingernail dysplasia
Abnormal fingernail development
0100798
5%-29% of people have these symptoms
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Percent of people who have these symptoms is not available through HPO
Absent distal phalanges
Absent outermost digital bones
0005807
Autosomal dominant inheritance 0000006
Bifid distal phalanx of the thumb
Notched outermost bone of the thumb
0009611
Broad distal phalanx of the thumb
Broad outermost bone of the thumb
Wide outermost bone of thumb
[ more ] 		0009642
Coloboma
Notched pupil
0000589
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Coloboma of macula with type B brachydactyly. Click on the link to view a sample search on this topic.

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