Hand-foot-uterus (HFU) syndrome is characterized by abnormalities of the hand, foot, urinary tract, and reproductive tract.
HFU is a rare genetic condition. Its hallmarks include incurving of the fingers (clinodactyly) and shortened and relocated thumbs. There are also wrist- and ankle-bone fusions, very small feet, short great toes, urinary-tract abnormalities, duplications of the reproductive tract in women, urethral openings on the underside of the penis in men, and curved penis. HFU was first described in 1970. Based on the findings of genital abnormalities in affected males, a 1975 study suggested that the more accurate name of the syndrome would be hand-foot-genital (HFG) syndrome.
The genetic associations of hand-foot-uterus syndrome are not fully understood. A study in 1997 found mutations (changes) in a gene called HOXA13, located on chromosome #7, which appears to bring about HFU. It seems that most cases of HFU are caused by a mutation in HOXA13, but other genes may be involved.
The ethnic origins of individuals affected by HFU are varied. The syndrome also does not appear to be more common in any specific country.
Signs and symptoms
Signs of HFU syndrome are seen in the hands, feet, urinary tract, and reproductive tract. Individuals in the same family may have different effects of varied severity; this is called intrafamilial variability.
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 available in 2001.
Treatment and management
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.
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.
Children with Hand Differences: A Guide for Families. Center for Limb Differences. Grand Rapids, Michigan: Area Child Amputee Center Publications.
Cherub Association of Families & Friends of Limb Disorder Children. 8401 Powers Rd., Batavia, NY 14020. (716) 762-9997.
Hensle, Terry W., Steven Y. Tennenbaum, and Elizabeth A. Reiley. "Hypospadias: What Every Parent Should Know." <http://18.104.22.168/pediatric/hypospadias.html> (1997).
OMIM—Online Mendelian Inheritance of Man.<http://www3.ncbi.nlm.nih.gov/Omim/>.
Dawn A. Jacob, MS, CGC