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

Ulna hypoplasia-intellectual disability syndrome


Other Names:
Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation; Bilateral ulnar hypoplasia and mental retardation
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2249

Definition
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

Epidemiology
It has been reported in two sibs.

Genetic counseling
The family is suggestive of autosomal recessive inheritance.

Prognosis
Prognosis is poor.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2010

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
Absent fingernail 0001817
Absent toenail 0001802
Delayed cranial suture closure 0000270
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Global developmental delay 0001263
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Large fontanelles
Wide fontanelles
0000239
Mesomelia
Disproportionately short middle portion of limb
0003027
Metatarsus adductus
Front half of foot turns inward
0001840
Micromelia
Smaller or shorter than typical limbs
0002983
Muscular hypotonia
Low or weak muscle tone
0001252
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Specific learning disability 0001328
Talipes 0001883
Ulnar deviation of finger
Finger bends toward pinky
0009465
30%-79% of people have these symptoms
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bilateral ulnar hypoplasia 0005648
Intellectual disability, profound
IQ less than 20
0002187
Limitation of knee mobility
Limited knee movement
0010501
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] 		0002996
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
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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 Ulna hypoplasia-intellectual disability syndrome. Click on the link to view a sample search on this topic.

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