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Disease Profile
Ulnar-mammary syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q71.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
UMS; Schinzel syndrome; Ulnar-mammary syndrome of Pallister
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Ulnar-mammary
UMS is caused by
The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.[1]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
Absent axillary hair | 0002221 | |
Aplasia/Hypoplasia of the ulna |
Absence/underdevelopment of inner forearm bone
|
0006495 |
30%-79% of people have these symptoms | ||
Abnormality of the uterus |
Uterine abnormalities
Uterine malformations
[ more ] |
0000130 |
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased fertility |
Abnormal fertility
|
0000144 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Obesity |
Having too much body fat
|
0001513 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormality of the humerus | 0003063 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the radius | 0002818 | |
Absent hand | 0004050 | |
Anal atresia |
Absent anus
|
0002023 |
Aplasia of the pectoralis major muscle | 0009751 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Breast aplasia |
Absent breast
|
0100783 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Ectopic anus |
Abnormal anus position
|
0004397 |
Hernia of the abdominal wall | 0004299 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Pyloric stenosis | 0002021 | |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Sprengel anomaly |
High shoulder blade
|
0000912 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Percent of people who have these symptoms is not available through HPO | ||
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
Aplasia of the ulna | 0003982 | |
0000006 | ||
Axillary apocrine gland hypoplasia | 0007397 | |
Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
Deformed radius | 0003977 | |
Ectopic posterior pituitary | 0011755 | |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Imperforate hymen | 0030011 | |
Inguinal hernia | 0000023 | |
Inverted nipples | 0003186 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Short 4th toe |
Short fourth toe
|
0008093 |
Short 5th toe |
Short little toe
Short pinkie toe
Short pinky toe
[ more ] |
0011917 |
Short clavicles |
Short collarbone
|
0000894 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ] |
0002215 |
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
Subglottic stenosis | 0001607 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: staff@birthdefects.org
Website: https://www.birthdefects.org/
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Ulnar-mammary syndrome. Click on the link to view a sample search on this topic.
References
- Kini U, Linden H. Ulnar-mammary syndrome. Orphanet. September, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138.
- Loyal J, Laub DR.. Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. Eplasty. September 27, 2014; 14:ic35. https://www.ncbi.nlm.nih.gov/m/pubmed/25328580.