Última actualización:
March 27, 2008
Años publicados: 1994, 2000, 2002, 2008
Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation. Primary physical findings include growth delays, webbing or fusion (syndactyly) of certain fingers and toes, inward deviation or bending (clinodactyly) of the fifth fingers (“pinkies”) and microcephaly, condition that indicates that the head circumference is smaller than would be expected for an infant’s age and sex. Filippi syndrome is transmitted as an autosomal recessive trait.
Filippi syndrome is characterized by growth delays before and after birth (prenatal and postnatal growth retardation), a low birth weight, and short stature. Affected individuals also have characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Affected infants may often exhibit microcephaly, condition that indicates that the head circumference is smaller than would be expected for an infant’s age and sex
Individuals with Filippi syndrome also have malformations of the fingers and toes (digits). These may include webbing or fusion (syndactyly) of certain digits, such as the third and fourth fingers and/or the second, third, and fourth toes. Partial or complete webbing of these particular digits is sometimes referred to as “syndactyly type I.” The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected digits. Filippi syndrome may also be characterized by additional digital abnormalities. In some cases, there may be inward deviation (clinodactyly) of the fifth fingers (pinkies). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of bones within the body of the hands and feet (metacarpals and metatarsals).
Individuals with Filippi syndrome have distinctive facial features including 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 mental retardation and some affected individuals may have defective language and speech development, potentially resulting in an inability to speak.
Some individuals with the disorder 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.
Filippi syndrome is transmitted as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Some cases of Filippi syndrome have had parents who were related by blood (consanguineous). All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Filippi syndrome is a rare genetic disorder that appears to affect males and females equally. Since the disorder was originally described in 1985 (G. Filippi), approximately 18 cases have been reported in the medical literature, including affected siblings within certain families (kindreds) as well as isolated cases.
Filippi syndrome is sometimes classified as one of the “craniodigital syndromes,” several disorders loosely grouped together because of similar abnormalities affecting the head and fingers and toes.
The diagnosis of Filippi syndrome may be made at birth or during early infancy based upon a thorough clinical evaluation and characteristic physical findings. Specialized testing, such as certain advanced imaging techniques, may also be conducted to detect or characterize particular findings that may be associated with the disorder.
Treatment
The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Such 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 potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.
Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, speech therapy, or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for individuals with Filippi syndrome and their families. Other treatment is symptomatic and supportive.
These disorders include Chitayat syndrome, Zerres syndrome, Kelly syndrome, Woods syndrome and Pfeiffer-Kapferer syndrome
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TEXTBOOKS
Buyse ML. Birth Defects Encyclopedia. Dover, MA; Blackwell Scientific Publications, Inc.; 1990:458, 1000-1001, 1619.
Gorlin RJ, Cohen MMJr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:1082.
JOURNAL ARTICLES
Sharif S, Donnai D. Filippi syndrome: two cases with ectodermal features, expanding the phenotype. Clin Dysmorphol. 2004;13:221-6.
Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D. Filippi syndrome: a specific MCA/MR complex within the spectrum of so called “craniodigital syndromes”. Report of an additional patient with a peculiar MPP and review of the literature. Genet Couns. 2002;13:343-352.
Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA. Filippi syndrome: report of three additional cases. Am J Med Genet. 1999;87:128-133.
Fryer A. Filippi syndrome with mild learning difficulties. Clin Dysmorph. 1996;5: 35-39.
Toriello HV, Higgins JV. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. Am J Med Genet. 1995;55:200-204.
Heron D, Billette de Villemeur T, Munnich A, Lyonnet S. Filippi syndrome: a new case with skeletal abnormalities. J Med Genet. 1995;32:659-661.
Meinecke P. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome: report on a second family. Genet Couns. 1993;4:147-151.
Woods CG, Crouchman M, Huson SM. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities. J Med Genet. 1992;29:500-502.
Filippi G. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome? Am J Med Genet. 1985;22:821-824.
FROM THE INTERNET
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:272440; Last Update:05/04/2005. Available at: https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272440 Accessed on: October 2, 2007.
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The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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