ORPHA:3138
Ulnar-mammary syndrome
Synonyms: Pallister ulnar-mammary syndrome · Schinzel syndrome · UMS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Antenatal, Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ulnar-mammary syndrome | Pallister ulnar-mammary syndrome · Schinzel syndrome · UMS |
| fr | Syndrome cubito-mammaire | Syndrome cubito-mammaire de Pallister · Syndrome de Schinzel · UMS |
| de | Ulna-Mamma-Syndrom | Schinzel-Syndrom · UMS · Ulna-Mamma-Syndrom Typ Pallister |
| es | Síndrome ulnar-mamario | Síndrome cubital-mamario de Pallister · Síndrome de Schinzel · UMS |
| it | Sindrome ulnare-mammaria | Sindrome di Schinzel · Sindrome ulnare-mammaria di Pallister · UMS |
| nl | Ulnair-mammair syndroom | Schinzelsyndroom · UMS · Ulnair-mammair syndroom van Pallister |
| pt | Síndrome cúbito-mamário | Síndrome Schinzel · Síndrome cúbito-mamário Pallister · UMS |
| pl | Zespół łokciowo-piersiowy | UMS · Zespół łokciowo-sutkowy Pallistera · Zespół Schinzela |
| cs | Ulnární-mamární syndrom | UMS · Pallisterův ulnární-mamární syndrom · Schinzelův syndrom |
| uk | Ліктьово-маммарний синдром | Ліктьово-матеріальний синдром Паллістера · Синдром Шинцеля · UMS |
| zh | 尺骨-乳腺综合征 | Pallister尺骨-乳腺综合征 |
| tr | Ulnar-mammary sendromu | UMS · Schinzel sendromu · Pallister ulnar-meme sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181450 | E | validated | |
| ICD-10 | Q71.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008411 | E | validated | |
| MeSH | C536937 | E | validated | |
| UMLS | C1866994 | E | validated | |
| GARD | 118 | E | validated | |
| MedDRA | 10084409 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:180173Deficient breast volume or number
rare gynecological and obstetric diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11602 | ENSG00000135111 | 601621 | 12q24.21 | T-box transcription factor 3 | 19938096[PMID]_10330342[PMID]_12668170[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 128 cases | Worldwide | Case(s) | Validated | 24679913[PMID]_30654152[PMID]_ 30550377[PMID]_ 28145909[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
36 annotations · validated 2017-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0002221 | Absent axillary hair | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| Frequent (79-30%) | ||
| HP:0000130 | Abnormality of the uterus | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0000823 | Delayed puberty | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0001513 | Obesity | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0004050 | Absent hand | |
| HP:0002023 | Anal atresia | |
| HP:0009751 | Aplasia of the pectoralis major muscle | |
| HP:0011675 | Arrhythmia | |
| HP:0100783 | Breast aplasia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004397 | Ectopic anus | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0000668 | Hypodontia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001601 | Laryngomalacia | |
| HP:0000768 | Pectus carinatum | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000912 | Sprengel anomaly | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3138
- This record as JSON: /data/d/3138.json