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Diseases

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
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Symptoms

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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.[1][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.[1][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.[1][2]
Last updated: 9/14/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Clinodactyly of the 5th finger 90%
Cognitive impairment 90%
Cryptorchidism 90%
Finger syndactyly 90%
Microcephaly 90%
Neurological speech impairment 90%
Prominent nasal bridge 90%
Short stature 90%
Underdeveloped nasal alae 90%
Delayed skeletal maturation 50%
Frontal bossing 50%
Single transverse palmar crease 50%
2-4 toe syndactyly -
Autosomal recessive inheritance -
Broad forehead -
Cerebellar atrophy -
Decreased body weight -
Dystonia -
Intellectual disability -
Intrauterine growth retardation -
Optic atrophy -
Postnatal growth retardation -
Proptosis -
Seizures -
Short philtrum -
Thin vermilion border -
Ventricular septal defect -
Visual impairment -
Wide nasal bridge -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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.
  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.


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.