Medicine:Filippi Syndrome
| Filippi Syndrome | |
|---|---|
| Other names | Syndactyly Type I with Microcephaly and Mental Retardation |
Filippi syndrome is a rare genetic disorder that may be congenital.[1] It is characterized by deformities, developmental delays,[2] as well as intellectual disabilities.[3]:205
Filippi syndrome is sometimes classified as a “craniodigital syndrome,” because of the similar abnormalities affecting the head and fingers and toes.[1] It was first reported in 1985.[1]
Causes
Filippi syndrome is transmitted by genetics.[1] Like when the CKAP2L gene is not working properly it can cause the disorder.[4] The disorder might also be due to HOXD insufficiency.[5] Mutations in genes for brain development and limb development might also be a cause.[6]:195
Parents who are carriers of defective genes for the disease are clinically normal.[7][1]However, the offspring of two carrier parents have a 25% of getting the disorder. Parents who are close relatives have a higher chance of having children with this disorder than unrelated parents who are carriers.[1]
Epidemiology
It appears to affect both males and females equally.[1]
As of 2020, it is unclear exactly how many people have Filippi syndrome.[4] However, the CDC says less than 25 cases have been reported,[8] the National Organization for Rare Disorders says about 18 cases have been reported,[1] while the National Center for Advancing Translational Sciences says 30 cases have been reported in literature.[4]
Orphanet says it occurs in 1 in one million people.[9]
Symptoms
Due to the few reported cases, it is currently unclear how Filippi syndrome changes over time.[4]
Seizures are also present.[10]
Patients with this condition can have microcephaly[2] and is often noticeable at birth.[7]
There is also low birth weight.[3]:205
Some males with this condition have undescended testes.[7] Ambiguous genitalia can also be present.[4]
Short stature is also present, with only a few patients gaining a normal height over time.[6]:194
Language
Patients can have symptoms relating to language like mutism, aphasia, speech delay, or echolalia.[4] Children with this condition may only speak a few words or simple sentences[6]:194-195 and possibly unable to speak.[1]
Diagnosis
Diagnosis is based on clinical observation. If skeletal abnormalities are suspected X-rays can be used.[6]:195
Genetic testing can also confirm a diagnosis.[4]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 "Filippi Syndrome" (in en-US). https://rarediseases.org/rare-diseases/filippi-syndrome/.
- ↑ 2.0 2.1 Pryse-Phillips, William (2009-06-03) (in en). Companion to Clinical Neurology. Oxford University Press, USA. pp. 375. ISBN 978-0-19-536772-0. https://books.google.com/books?id=rlZnDAAAQBAJ&dq=Filippi+Syndrome&pg=PA622.
- ↑ 3.0 3.1 Weaver, David D.; Brandt, Ira K. (1999) (in en). Catalog of Prenatally Diagnosed Conditions. JHU Press. ISBN 978-0-8018-6044-7. https://books.google.com/books?id=m2Mx9KyY-igC&dq=Filippi+syndrome&pg=PA205.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 "Filippi syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/62/filippi-syndrome.
- ↑ Gardner, R. J. McKinlay; Amor, David (2018-02-06) (in en). Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling. Oxford University Press. pp. 273. ISBN 978-0-19-932901-4. https://books.google.com/books?id=mPhJDwAAQBAJ&dq=Filippi+syndrome&pg=PA273.
- ↑ 6.0 6.1 6.2 6.3 Disorders, National Organization for Rare (2003) (in en). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0-7817-3063-1. https://books.google.com/books?id=99YPDvFWBB0C&dq=Filippi+Syndrome&pg=PA195.
- ↑ 7.0 7.1 7.2 "Filippi Syndrome | Hereditary Ocular Diseases". https://disorders.eyes.arizona.edu/handouts/filippi-syndrome.
- ↑ https://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=720954000
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Filippi syndrome Syndactyly type 1 microcephaly mental retardation" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2910&Disease_Disease_Search_diseaseGroup=Syndactyly&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Filippi-syndrome--Syndactyly--type-1---microcephaly---mental-retardation-&title=Filippi-syndrome--Syndactyly--type-1---microcephaly---mental-retardation-&search=Disease_Search_Simple.
- ↑ Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmüller, Janine; Thiele, Holger et al. (2014-11-06). "Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome" (in en). The American Journal of Human Genetics 95 (5): 622–632. doi:10.1016/j.ajhg.2014.10.008. ISSN 0002-9297. PMID 25439729.
 |
