Filippi Syndrome

Clinical Characteristics

Ocular Features:

The ocular features have not been fully described. The most consistent features are long eyelashes, thick (bushy) eyebrows, and 'visual disturbance'. Most individuals have a facial dysmorphism which includes a broad nasal base suggestive of hypertelorism. Optic atrophy and proptosis have been noted.

Systemic Features:

Intrauterine growth retardation is sometimes seen. Microcephaly, short stature, syndactyly, intellectual disability (often labeled mental retardation), and a dysmorphic face are characteristic. Some individuals have cryptorchidism, seizures, and ectodermal abnormalities including nail hypoplasia, hirsutism, and microdontia. Mental and physical delays are common. The syndactyly usually involves only soft tissue between toes 2, 3, and 4 and fingers 3 and 4 accompanied by clinodactyly of the 5^th finger. Polydactyly is sometimes present while radiologically the radial head may show evidence of hypoplasia.

Genetics

Homozygosity or compound heterozygosity in the CKAP2L [1] gene (2q13) segregates with this phenotype.

Treatment

Treatment Options:

No treatment is known.

References

Article Title:

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome [2]

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. 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.

PubMed ID:

25439729

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature [3]

Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D. Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. Genet Couns. 2002;13(3):343-52. Review.

PubMed ID:

12416644

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome [4]

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

PubMed ID:

4073130