Symphalangism with multiple anomalies of hands and feet

Title

Other Names:

Learman syndrome

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 3246

Definition

Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.

Visit the Orphanet disease page for more resources.

Last updated: 4/1/2018

Symptoms Symptoms

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
Reduced proximal interphalangeal joint space	Decreased space in hinge joint	0006019
Symphalangism of the 4th finger	Fused ring finger bones	0004197
Symphalangism of the 5th finger	Fused little finger bones Fused pinkie finger bones Fused pinky finger bones [ more ]	0004218
30%-79% of people have these symptoms
Absent distal interphalangeal creases		0001032
Absent distal phalanges	Absent outermost digital bones	0005807
Brachydactyly	Short fingers or toes	0001156
Clinodactyly	Permanent curving of the finger	0030084
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Small hypothenar eminence		0010487
Small thenar eminence		0001245
Symphalangism affecting the phalanges of the toes	Fused toe bones	0010179
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
5%-29% of people have these symptoms
Abnormal palmar dermatoglyphics		0001018
Aplasia/Hypoplasia of the distal phalanx of the 5th toe	Absent/small outermost little toe bone Absent/small outermost pinkie toe bone Absent/small outermost pinky toe bone Absent/underdeveloped outermost pinky toe bone [ more ]	0100371
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Cutaneous syndactyly between fingers 2 and 5		0005650
Short distal phalanx of hallux	Small outermost bone of big toe	0010103
Percent of people who have these symptoms is not available through HPO
Absent dorsal skin creases over affected joints		0001049
Autosomal dominant inheritance		0000006
Clinodactyly of the 5th toe		0001864
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Proximal symphalangism of hands	Fused innermost hinge joints	0006152

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

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Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

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 Symphalangism with multiple anomalies of hands and feet. Click on the link to view a sample search on this topic.

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