Ulnar-mammary syndrome

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Ulnar-mammary syndrome

ORPHA:3138Malformation syndrome

Also called Pallister ulnar-mammary syndrome · Schinzel syndrome · UMS

What it is

A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.

Key facts

Age of onset
Adolescent, Antenatal, Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

TBX3Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q71.8filed under a broader ICD-10 category — shared with 4 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 118MEDDRA 10084409MESH C536937MONDO 0008411OMIM 181450UMLS C1866994

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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