Synonym(s): - Schinzel syndrome - UMS - Ulnar-mammary syndrome of Pallister
Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C536937
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TBX3	O15119	601621

- Autosomal dominant inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Oligodactyly / ectrodactyly of fingers
- Thin / hypoplastic / hyperconvex fingernails
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

- Generalized obesity
- Hypoplastic / absent nipples
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Short stature / dwarfism / nanism
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Wrist / carpal anomalies

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent pectoral muscles
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Anus ectopia / anteposition / malposition
- Breast tissue / mammary gland absence / aplasia
- Camptodactyly of some fingers
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Clavicle absent / abnormal
- Gastric / pyloric stenosis
- Hand agenesis / absence
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Laryngomalacia
- Metacarpal anomalies / Archibald's sign
- Pectus carinatum
- Postaxial polydactyly (hand)
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin / hypoplastic toenails
- Ventricular septal defect / interventricular communication