National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Filippi syndrome


Other Names:
Syndactyly type I with microcephaly and mental retardation; Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly; Type 1 syndactyly-microcephaly-intellectual disability syndrome
Categories:
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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ] 		0002381
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Dysphasia 0002357
Echolalia
Echoing another person's speech
0010529
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Mutism
Inability to speak
Muteness
[ more ] 		0002300
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Specific learning disability 0001328
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] 		0000445
30%-79% of people have these symptoms
Aplastic/hypoplastic toenail
Absent/small toenails
Absent/underdeveloped toenails
[ more ] 		0010624
Bilateral single transverse palmar creases 0007598
Broad columella 0010761
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
Clinodactyly of the 5th toe 0001864
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Enlarged epiphyses
Large end part of bone
0010580
Frontal bossing 0002007
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Limb dystonia 0002451
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] 		0001376
Muscular hypotonia
Low or weak muscle tone
0001252
Optic atrophy 0000648
Paraplegia
Leg paralysis
0010550
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Short philtrum 0000322
Small nail
Small nails
0001792
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
5%-29% of people have these symptoms
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] 		0000062
Finger syndactyly 0006101
Hypertrichosis 0000998
Hypodontia
Failure of development of between one and six teeth
0000668
Seizure 0001250
Sparse hair 0008070
Supernumerary nipple
Accessory nipple
0002558
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ] 		0000233
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
2-4 toe syndactyly
Webbed 2nd-4th toes
0010714
Autosomal recessive inheritance 0000007
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cutaneous syndactyly 0012725
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] 		0004325
Dystonia 0001332
Finger clinodactyly 0040019
Frontal hirsutism
Hairy forehead
0011335
Low hanging columella 0009765
Microdontia
Decreased width of tooth
0000691
Postnatal growth retardation
Growth delay as children
0008897
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Single transverse palmar crease 0000954
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
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Last updated: 7/1/2020
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Filippi syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Please could you send me any information you have on Filippi syndrome or let me know where I can obtain information on it? See answer


  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.