Hand-foot-uterus (HFU) syndrome is characterized by abnormalities of the hand, foot, urinary tract, and reproductive tract.
* Clinodactyly of fifth finger * Incompletely rotated thumb * Small feet * Short great toe * Duplicated uterus
* Endometrial hyperplasia –Endogenous estrogen excess (e.g., obesity, tumor) –Exogenous estrogen –DUB is a diagnosis of exclusion (usually not cyclic, occurs irregularly throughout the menstrual cycle) * Polycystic ovarian syndrome * Hypo- or hyperthyroidism o Endometrial atrophy –Caused by long-term progestin or oral contraceptive use o Anatomic or structural lesions –Uterine leiomyoma (fibroids) –Foreign body (often intrauterine device) –Cervical or uterine polyps o Pelvic infection (cervicitis, pelvic inflammatory disease) o Hypothalamic lesion o Hyperprolactinemia o Medications (e.g., exogenous estrogen, phenothiazines, reserpine) o Coagulation disorders –Platelet dysfunction: Thrombocytopenia, leukemia, medications (e.g., aspirin, NSAIDs) –Clotting factor abnormality: Von Willebrand's disease, hemophilia, hepatic or renal disease, anticoagulant use + Complications of pregnancy –Spontaneous abortion (miscarriage) –Ectopic pregnancy –Placenta previa –Placental abruption # Endometrial cancer –Risk factors include older age, chronic anovulation, obesity, hypertension, DM, and unopposed estrogen # Systemic disease (e.g., HIV, hepatic disease, renal disease) # Nonuterine bleeding –Vaginal (tear, trauma, or cancer) –Cervical (trauma or cancer) –Urinary (UTI or cancer) –Rectal (bleeding, trauma, fissure, or cancer) # Other malignancy (ovarian or uterine tumor, sarcoma) # Endometrioma
Diagnosis of HFU is usually made from physical examination by a medical geneticist. Studying x rays of the hands, feet, and reproductive tract also aids in diagnosing the syndrome. Although the HOXA13 gene has clearly been associated with the disease, diagnostic genetic testing in affected individuals or in fetuses is not yet available.
Since HFU results in a variety of physical signs and symptoms, the prognosis for each affected individual varies. Most people with mild or moderate hand, genital, or foot abnormalities lead normal lives. Individuals with severe urinary- and/or reproductive-tract abnormalities may require many surgeries. Their prognoses depend on the severity of the abnormalities and survival of the surgeries. Some people with severe reproductive-tract abnormalities may have difficulty having children.
There is no specific therapy that removes, cures, or repairs all effects of hand-foot-uterus syndrome. Management of HFU mainly involves the treatment of specific effects. In people with moderate to severe genital, hand, or urinary-tract abnormalities, surgery may be needed.