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

Disease definition

Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Reduced proximal interphalangeal joint space	Very frequent (present in 80%-99% of cases)
Symphalangism of the 4th finger	Very frequent (present in 80%-99% of cases)
Symphalangism of the 5th finger	Very frequent (present in 80%-99% of cases)
Absent distal interphalangeal creases	Frequent (present in 30%-79% of cases)
Absent distal phalanges	Frequent (present in 30%-79% of cases)
Brachydactyly	Frequent (present in 30%-79% of cases)
Clinodactyly	Frequent (present in 30%-79% of cases)
Macrocephaly	Frequent (present in 30%-79% of cases)
Small hypothenar eminence	Frequent (present in 30%-79% of cases)
Small thenar eminence	Frequent (present in 30%-79% of cases)
Symphalangism affecting the phalanges of the toes	Frequent (present in 30%-79% of cases)
Toe syndactyly	Frequent (present in 30%-79% of cases)
Abnormal palmar dermatoglyphics	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the distal phalanx of the 5th toe	Occasional (present in 5%-29% of cases)
Conductive hearing impairment	Occasional (present in 5%-29% of cases)
Cutaneous syndactyly between fingers 2 and 5	Occasional (present in 5%-29% of cases)
Short distal phalanx of hallux	Occasional (present in 5%-29% of cases)
Absent dorsal skin creases over affected joints	-
Autosomal dominant inheritance	-
Clinodactyly of the 5th toe	-
Cutaneous finger syndactyly	-
Hearing impairment	-
Proximal symphalangism of hands	-

Last updated: 9/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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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