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Genetic and Rare Diseases Information Center (GARD)

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Filippi syndrome


Other Names for this Disease

  • Syndactyly type I with microcephaly and mental retardation
  • Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Filippi syndrome?

What are the signs and symptoms of Filippi syndrome?

How might Filippi syndrome be treated?

What is Filippi syndrome?

Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.[1][2] 
Last updated: 9/14/2011

What are the signs and symptoms of Filippi syndrome?

Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak.[3][2]

Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet.[3][2] 

Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted.[3][2]
Last updated: 9/14/2011

How might Filippi syndrome be treated?

The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors.[3]
Last updated: 9/14/2011

References
  1. Filippi syndrome. Orphanet. April 2008; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2910. Accessed 9/14/2011.
  2. Battaglia A, Filippi T, Pusceddu S, Williams CA. Filippi syndrome: further clinical characterization. Am J Med Genet A. 2008; 146A(14):1848-52. http://www.ncbi.nlm.nih.gov/pubmed/18553552. Accessed 9/14/2011.
  3. Filippi Syndrome. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/996/viewAbstract. Accessed 9/14/2011.


Other Names for this Disease
  • Syndactyly type I with microcephaly and mental retardation
  • Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.