Filippi syndrome

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

合計: 2

（表示件数）

PMID (PMCID)
26813917	OTHER
	Filippi Syndrome: Report of a Rare Case.
	Goyal L, Goyal JP, Bhakhri BK, Chug A. J Clin Diagn Res. 2015;9(12):SD01-3.
	Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, growth retardation and abnormal facies.
8395190	MIXED_SAMPLE
	Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
	Meinecke P. Genet Couns. 1993;4(2):147-51.
	Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome.