What are the other Names for this Condition? (Also known as/Synonyms)

• Pallister Ulnar-Mammary Syndrome
• Schinzel Syndrome
• Ulnar-Mammary Syndrome of Pallister

What is Ulnar-Mammary Syndrome? (Definition/Background Information)

• Ulnar-Mammary Syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia, and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described
• Upper limb defects are the most common presenting feature of UMS at birth. The limb phenotype ranges from normal limbs, hypoplasia of the distal phalanges of the little fingers or camptodactyly, to absent digits, absent or hypoplastic ulna and a reduced humerus. Abnormalities may be bilateral, but are frequently asymmetric and lower limb defects have not been reported
• The variable mammary and apocrine features of UMS may not be apparent until puberty and include mammary gland tissue hypoplasia (leading to absence of breast development and the inability to lactate), areolar or nipple hypoplasia, inverted nipples and apocrine gland hypoplasia (that can result in diminished perspiration and body odor)
• Associated absence of axillary hair has also been described. Shared facial features of UMS include a wide face tapering to a prominent chin, a broad nasal tip, and a wide nasal base
• Genital defects can include micropenis, shawl scrotum, cryptorchidism and imperforate hymen. Delayed puberty, particularly in males, is noted. Short stature is also common in individuals with Ulnar-Mammary Syndrome and a pituitary endocrine deficiency has been suggested as a possible cause
• Abnormalities of the teeth with ectopic, hypoplastic or absent canines have been noted in a number of individuals with UMS. Cardiac defects (ventricular septal defects or conduction abnormalities) have been reported in a few cases

(Source: Ulnar-Mammary Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Ulnar-Mammary Syndrome? (Age and Sex Distribution)

• Ulnar-Mammary Syndrome is a very rare congenital disorder with less than 150 cases reported in the medical literature 
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors? (Predisposing Factors)

• A positive family history is an important risk factor, since Ulnar-Mammary Syndrome is an inherited disorder
• Currently, no other risk factors have been clearly identified for Ulnar-Mammary Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ulnar-Mammary Syndrome? (Etiology)

• UMS is caused by mutations in the TBX3 gene (12q24.21). TBX3 is a member of the T-box gene family
• These genes encode transcription factors that have been shown to be important in embryologic development and in the morphogenesis of multiple organ systems

(Source: Ulnar-Mammary Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

• Ulnar-Mammary Syndrome is inherited in an autosomal dominant manner, with variable expressivity

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

In autosomal dominant inheritance with variable expressivity, the signs and symptoms may differ among affected individuals with the same genetic mutation. The variable expressivity may stem from a combination of genetic, environmental and lifestyle factors. Therefore, the signs and symptoms of a disease may vary even among affected individuals within the same family.

What are the Signs and Symptoms of Ulnar-Mammary Syndrome?

The signs and symptoms of Ulnar-Mammary Syndrome include:

• Absent radius
• Anal atresia
• Anal stenosis
• Anterior pituitary hypoplasia
• Aplasia of the ulna
• Axillary apocrine gland hypoplasia
• Breast hypoplasia
• Deformed radius
• Delayed puberty
• Ectopic posterior pituitary
• Hypodontia
• Hypoplasia of the radius
• Hypoplasia of the ulna
• Hypoplastic nipples
• Hypoplastic scapulae
• Imperforate hymen
• Inguinal hernia
• Inverted nipples
• Micropenis
• Obesity
• Postaxial hand polydactyly
• Pyloric stenosis
• Shawl scrotum
• Short 4th toe
• Short 5th toe
• Short clavicles
• Short humerus
• Sparse axillary hair
• Sparse lateral eyebrow
• Subglottic stenosis
• Ventricular septal defect

(Source: Ulnar-mammary syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Anophthalmia 

How is Ulnar-Mammary Syndrome Diagnosed?

Ulnar-Mammary Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the Possible Complications of Ulnar-Mammary Syndrome?

The complications of Ulnar-Mammary Syndrome may include:

• Severe upper limb deformities
• Infertility

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ulnar-Mammary Syndrome Treated?

There is no cure for Ulnar-Mammary Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Ulnar-Mammary Syndrome be Prevented?

• Ulnar-Mammary Syndrome may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Ulnar-Mammary Syndrome? (Outcomes/Resolutions)

• The prognosis of Ulnar-Mammary Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ulnar-Mammary Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/