Filippi syndrome

Definition:

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.

References:

[1]. Agatino Battaglia, et al. Filippi syndrome: further clinical characterization. Am J Med Genet A. 2008 Jul 15;146A(14):1848-52. [Content Brief]

[2]. G Filippi, et al. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?. Am J Med Genet. 1985 Dec;22(4):821-4. [Content Brief]

[3]. Lata Goyal, et al. Filippi Syndrome: Report of a Rare Case. J Clin Diagn Res. 2015 Dec;9(12):SD01-3. [Content Brief]

[4]. Muhammad Sajid Hussain, et al. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. 2014 Nov 6;95(5):622-32. [Content Brief]

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