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ulnar-mammary syndrome
ICD-10 Codes
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Description
Ulnar-Mammary Syndrome (UMS): A Rare Genetic Disorder
Ulnar-mammary syndrome, also known as Schinzel syndrome, is a rare autosomal dominant genetic disorder that affects the development of several parts of the body. This condition is characterized by abnormalities in the upper limbs, mammary and apocrine glands, and genitalia.
Key Features:
- Upper Limb Abnormalities: UMS often presents with defects on the ulnar side of the upper limbs, including hypoplasia or aplasia (underdevelopment or absence) of the ulna bone.
- Mammary and Apocrine Gland Hypoplasia: Individuals with UMS may experience underdevelopment or absence of mammary glands and apocrine glands in both sexes.
- Genital Anomalies: The condition can also affect genital development, leading to various anomalies.
Other Possible Features:
- Split hand or foot
- Camptodactyly (a type of finger deformity)
- Postaxial polydactyly (extra fingers or toes)
- Hypoplastic or missing ulna bone
Causes and Inheritance: UMS is caused by mutations in the TBX3 gene, which disrupts normal development. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the disorder.
Variability and Penetrance: The symptoms of UMS can vary significantly from person to person, even within the same family. This variability makes accurate diagnosis challenging. Additionally, the penetrance of the condition (i.e., the likelihood that an individual with the mutation will develop the disease) is incomplete, meaning not everyone with the mutated gene will express the full range of symptoms.
References:
- [1] McKusick, V. A. (1975). Ulnar-mammary syndrome. In Mendelian Inheritance in Man (pp. 181450).
- [6] Ulnar–mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3.
- [11] E Galazzi · 2018 · Cited by 13 — Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency.
- [15] Ulnar-mammary syndrome (UMS), also known as Schinzel syndrome, is a rare autosomal dominant genetic disorder with a spectrum of manifestations primarily affecting the development of the upper limbs, mammary and apocrine glands, and genitalia.
Additional Characteristics
- Postaxial polydactyly
- Genital Anomalies
- Ulnar-mammary syndrome (UMS)
- Upper Limb Abnormalities
- Mammary and Apocrine Gland Hypoplasia
- Split hand or foot
- Camptodactyly
- Hypoplastic or missing ulna bone
Signs and Symptoms
Common Signs and Symptoms of Ulnar-Mammary Syndrome
Ulnar-mammary syndrome, also known as Schinzel syndrome or Pallister ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities affecting the bones of the hands and forearms. The signs and symptoms of this condition can vary significantly from person to person, even within the same family.
Key Features:
- Abnormalities affecting the bones of the hands and forearms (ulnar defects)
- Underdevelopment or dysfunction of certain sweat glands (apocrine) and/or the breasts (mammary glands)
- Other signs and symptoms may include:
- Hormonal deficiencies
- Delayed puberty, particularly in males
- Dental problems
- Short stature
- Obesity
- Distinct facial features, including a wide nose and mouth
Additional Symptoms:
- Upper limb defects are the most common presenting feature of UMS at birth.
- The upper limbs can be normal, but the limb phenotype is variable and can range from mild to severe.
- Other signs and symptoms may include:
- Hypoplastic or missing ulna
- Camptodactyly (a condition where one finger is bent towards the others)
- Postaxial polydactyly (extra fingers or toes)
Variability in Symptoms:
Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The severity of the signs and symptoms can also impact the prognosis of the condition.
References:
- [2] Schinzel syndrome is an extremely rare inherited disorder characterized by abnormalities affecting the bones of the hands and forearms.
- [3] Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous (or skin) condition characterized by nipple and breast hypoplasia (or aplasia).
- [7] Upper limb defects are the most common presenting feature of UMS at birth.
- [10] Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family.
- [12] The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.
- [13] Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family.
Additional Symptoms
- Obesity
- Postaxial polydactyly (extra fingers or toes)
- Dental problems
- Abnormalities affecting the bones of the hands and forearms (ulnar defects)
- or the breasts (mammary glands)
- Hormonal deficiencies
- Delayed puberty, particularly in males
- Distinct facial features, including a wide nose and mouth
- Upper limb defects
- Hypoplastic or missing ulna
- Camptodactyly (a condition where one finger is bent towards the others)
- Fifth finger anomalies
- Mammary hypoplasia
- short stature
Diagnostic Tests
Diagnostic Tests for Ulnar-Mammary Syndrome (UMS)
Ulnar-mammary syndrome (UMS) is a rare genetic disorder characterized by abnormalities in the upper limbs, mammary glands, and genital areas. Diagnosing UMS can be challenging, but several diagnostic tests can help confirm the condition.
- Clinical Examination: A thorough physical examination by a healthcare professional is essential to identify characteristic features of UMS, such as ulnar defects, mammary and apocrine gland hypoplasia, and genital anomalies [1][6].
- Genetic Testing: Molecular genetic analysis of the TBX3 gene can establish a diagnosis of UMS, especially when physical examination findings are within normal range [2][4]. This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.
- GnRH Stimulation Tests: These tests can help assess gonadotropin responses and testosterone levels in individuals suspected to have UMS [5].
- hCG Stimulation Tests: These tests can also be conducted to evaluate testosterone responses in individuals with suspected UMS [5].
It's essential to note that a diagnosis of UMS is often made based on clinical findings, family history, and genetic analysis. A comprehensive diagnostic approach involving multiple tests may be necessary to confirm the condition.
References: [1] Schinzel syndrome, also known as ulnar-mammary syndrome (context 3) [2] Genetic analysis of TBX3 genes can establish a diagnosis of UMS (context 4) [3] Upper extremity differences are noticeable at birth in individuals with UMS (context 6) [4] Genetic testing may demonstrate a TBX3 mutation in individuals with UMS (context 6) [5] GnRH and hCG stimulation tests can help assess gonadotropin and testosterone responses in individuals suspected to have UMS (context 5)
Additional Diagnostic Tests
- Clinical Examination
- Genetic Testing of TBX3 gene
- GnRH Stimulation Tests
- hCG Stimulation Tests
Treatment
Based on the provided context, it appears that there are limited resources available for the treatment of ulnar-mammary syndrome (UMS). However, some information can be gleaned from the search results
Recommended Medications
- There is no specific drug treatment for UMS.
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for ulnar-mammary syndrome (UMS) includes several conditions that present similar symptoms. Some of these conditions are:
- Limb-mammary syndrome, which is caused by variants in the TP63 gene [1][2].
- Poland syndrome, a sporadic condition characterized by abnormalities on one side of the body, including the hand and forearm [3].
- Hand-foot-uterus syndrome, an autosomal dominant disorder that has been speculated to be allelic with UMS [4][5].
It's worth noting that differential diagnoses can vary depending on the severity and presentation of symptoms. In some cases, a diagnosis of UMS may be considered even when there are subtler physical examination findings [6].
Additional Differential Diagnoses
Additional Information
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- A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
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