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

Johnson Munson syndrome


Other Names:
Aphalangy with Hemivertebrae; Aphalangy of the hands and feet, hemivertebrae, and visceral malformations
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1112

Definition
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2015

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
Aplasia/Hypoplasia of the phalanges of the hand 0009767
Aplasia/Hypoplasia of the phalanges of the toes
Absent/small toe bones
Absent/underdeveloped toe bones
[ more ] 		0010173
Hemivertebrae
Missing part of vertebrae
0002937
Split foot
Lobster-claw foot deformity
Split-foot
[ more ] 		0001839
30%-79% of people have these symptoms
Abnormality of female external genitalia
Abnormal female external genitalia
0000055
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Anonychia
Absent nails
Aplastic nails
[ more ] 		0001798
Asymmetry of the thorax
Asymmetric chest
0001555
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Finger syndactyly 0006101
Oligohydramnios
Low levels of amniotic fluid
0001562
Patent ductus arteriosus 0001643
Persistent cloaca 0012621
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Vaginal fistula 0004320
Percent of people who have these symptoms is not available through HPO
Abnormality of the genitourinary system 0000119
Aphalangy of hands and feet 0200113
Autosomal recessive inheritance 0000007
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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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 Johnson Munson syndrome. Click on the link to view a sample search on this topic.

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