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  3. Filippi syndrome
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Filippi syndrome


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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:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. Signs and symptoms include 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 may can include vision problems, extra fingers and toes, and seizures. Because Filippi syndrome is very rare, it is not known how this condition changes over time. Filippi syndrome is caused by a genetic variant in the CKAP2L gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3]
Last updated: 11/18/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with Filippi syndrome. These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms may include:[1][2]
  • Small head size
  • Webbing or fusion of the fingers and/or toes (syndactyly)
  • Distinctive facial features with a small chin (micrognathia)
  • Intellectual disability
  • Speech delay
  • Growth delay
Growth delays typically start before birth and older individuals with Filippi syndrome may be shorter than average. Other symptoms have been reported in Filippi syndrome including dental abnormalities, vision problems, extra fingers and toes, and seizures.[2] Because few people with this condition have been reported, it is not clear how this condition changes over time.
Last updated: 11/18/2020

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.

Showing of 57 |
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
Showing of 57 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


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Filippi syndrome occurs when the CKAP2L gene is not working correct. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[3] 

Last updated: 11/18/2020

Inheritance Inheritance


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Filippi syndrome is inherited in an autosomal recessive pattern.[3] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.
  
People with autosomal recessive conditions inherit one variant from each of their parents. The parents, who each have one gene variant, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.
Last updated: 11/18/2020

Diagnosis Diagnosis


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Filippi syndrome is diagnosed based on the symptoms, clinical exam, imaging studies and may be confirmed by the results of genetic testing.[1][2]
Last updated: 11/18/2020

Treatment Treatment


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Treatment of Filippi syndrome is focused on managing the symptoms. Options may include surgery to correct fused fingers and physical and speech therapy.[1][2]

Specialists involved in the care of someone with Filippi syndrome may include:
  • Neurologist
  • Orthopedics
  • Dentist
  • Hand surgeon
  • Physical therapist
  • Occupational therapist
  • Speech therapist
Last updated: 11/18/2020

Statistics Statistics


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It can be difficult to estimate the exact number of people affected by a rare condition. Some people may go undiagnosed or may be diagnosed incorrectly. Others may not seek medical care. The following estimate is based on the best information available in the medical literature. These estimates may change based on new medical information.

There have been about 30 cases of Filippi syndrome reported in the medical literature. It is unclear exactly how many people have Filippi syndrome.[2]
Last updated: 11/18/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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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.

Organizations Organizations


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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

  • About Face International
    51 Wolseley Street
    Toronto, ON M5T 1A4
    Canada
    Toll-free: 1-800-665-3223
    Telephone: +1-416-597-2229
    Fax: +1-416-597-8494
    E-mail: info@aboutface.ca
    Website: https://www.aboutface.ca/
  • Ameriface
    PO Box 751112
    Las Vegas, NV 89136
    Toll-free: 888-486-1209
    Telephone: 702-769-9264
    E-mail: info@ameriface.org
    Website: http://www.ameriface.org
  • FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Toll-free: 800-332-2373
    Telephone: 423-266-1632
    E-mail: faces@faces-cranio.org
    Website: http://www.faces-cranio.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Capecchi G, Baldassarri M, Ferranti S, Guidoni E, Cioni M, Nürnberg P, Mencarelli MA, Renieri A, Grosso S. CKAP2L mutation confirms the diagnosis of Filippi syndrome. Clin Genet. May 2018; 93(5):1109-1110. https://pubmed.ncbi.nlm.nih.gov/29473684.
  2. Sabir A, WalkerJK, Hart R.. Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty. Clin Dysmorphol. Oct 2019; 28(4):224-226. https://pubmed.ncbi.nlm.nih.gov/30921095/.
  3. Hussain MS, Battagla A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, et al. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. Nov 6, 2014; 95(5):622-632. https://pubmed.ncbi.nlm.nih.gov/25439729.
  4. 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.
Do you know of a review article? We want to hear from you.
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