Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. Only a very limited number of cases have been reported to date. Filippi Syndrome is associated with diverse symptoms of varying severity across affected individuals, for example malformation of digits, craniofacial abnormalities, intellectual disability, and growth retardation. The diagnosis of Filippi Syndrome can be done through clinical observation, radiography, and genetic testing. Filippi Syndrome cannot be cured directly as of 2022, hence the main focus of treatments is on tackling the symptoms observed on affected individuals. It was first reported in 1985. Signs and symptoms
The symptoms of Filippi Syndrome can be congenital (apparent as an infant). The occurrence and severity of such symptoms are variable across affected individuals. The progression of symptoms over ones lifetime has not been thoroughly studied due to the small number of people with Filippi Syndrome globally. Malformations of digits
Malformations of digits are expressed among people with Filippi Syndrome. One of the most common malformations is the webbing or fusion of digits, which is termed syndactyly. In particular, syndactyly of the third and fourth fingers or the second, third and fourth toes is termed "syndactyly type 1". The degree of syndactyly may differ across affected individuals, with some exhibiting syndactyly of soft tissues and skin only, and more severe cases exhibiting syndactyly of digital bones.Other malformations of digits include clinodactyly (curving) of the fifth fingers and brachydactyly (abnormal shortening) of digits.
Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the eyelids is called the intercanthal distance. In most people, the intercanthal distance is equal to the width of each eye (the distance between the inner and outer corners of each eye). The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm.Traumatic telecanthus refers to telecanthus resulting from traumatic injury to the nasal-orbital-ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The pathology can be either unilateral or bilateral, with the former more difficult to measure. Systemic associations
Telecanthus is often associated with many congenital disorders. Congenital disorders such as Down syndrome, fetal alcohol syndrome, cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers–Danlos syndrome, Waardenburg syndrome often present with prominent epicanthal folds, and if these folds are nasal (as they most commonly are) they will cause telecanthus. Etymology
Telecanthus comes from the Greek word τῆλε (tele, "far") and the Latin word canthus, meaning corner of the eyelid. Dystopia canthorum comes from the Greek δυσ- (dus-, “bad”) and τόπος (tópos, “place”) and the Latin word canthorum ("of the canthi"). See also
Blepharophimosis, reduced size of the eyelid openings, which can result in telecanthus


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