Filippi syndrome is characterized by Growth delays before and after birth (prenatal and postnatal growth retardation), a low birth weight, and short stature. Affected individuals also have characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Affected infants may often exhibit microcephaly, condition that indicates that the head circumference is smaller than would be expected for an infant’s age and sex
Individuals with Filippi syndrome also have malformations of the fingers and toes (digits). These may include webbing or fusion (syndactyly) of certain digits, such as the third and fourth fingers and/or the second, third, and fourth toes. Partial or complete webbing of these particular digits is sometimes referred to as “syndactyly type I.” The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected digits. Filippi syndrome may also be characterized by additional digital abnormalities. In some cases, there may be inward deviation (clinodactyly) of the fifth fingers (pinkies). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of bones within the body of the hands and feet (metacarpals and metatarsals).
Individuals with Filippi syndrome have Distinctive facial features including a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip and widely spaced eyes (hypertelorism).
Filippi syndrome is also characterized by mild to severe Mental retardation and some affected individuals may have defective language and speech development, potentially resulting in an inability to speak.
Some individuals with the disorder may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate) and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted.