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Disease Profile

Ulnar-mammary syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

UMS; Schinzel syndrome; Ulnar-mammary syndrome of Pallister

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose.[1][2]

UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance. Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present.[1][2]

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
Short stature
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 polydactyly
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
Autosomal dominant inheritance
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

      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

          1. Kini U, Linden H. Ulnar-mammary syndrome. Orphanet. September, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138.
          2. 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.