KEGG DISEASE: Filippi syndrome

KEGG

DISEASE: Filippi syndrome

Entry

H01857                      Disease

Name

Filippi syndrome;
Syndactyly type 1 with microcephaly and intellectual disability

Description

Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual facies. Syndactyly of hands and feet seems to be the hallmark of the syndrome; 3-4 finger syndactyly being the most common. The facial appearance, including prominent nasal bridge with hypoplastic alae nasi, is similar in all patients. It has been shown that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01857  Filippi syndrome

Gene

CKAP2L [HSA:150468] [KO:K16769]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Filippi G

Title

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

Journal

Am J Med Genet 22:821-4 (1985)
DOI:10.1002/ajmg.1320220416

Reference

Authors

Goyal L, Goyal JP, Bhakhri BK, Chug A

Title

Filippi Syndrome: Report of a Rare Case.

Journal

J Clin Diagn Res 9:SD01-3 (2015)
DOI:10.7860/JCDR/2015/14550.6945

Reference

Authors

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmuller J, Thiele H, Nurnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nurnberg P

Title

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Journal

Am J Hum Genet 95:622-32 (2014)
DOI:10.1016/j.ajhg.2014.10.008

Reference

Authors

Battaglia A, Filippi T, Pusceddu S, Williams CA

Title

Filippi syndrome: further clinical characterization.

Journal

Am J Med Genet A 146A:1848-52 (2008)
DOI:10.1002/ajmg.a.32400

LinkDB

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