OMIM ID:
Filippi Syndrome
Alternate Names
Defective Genes
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 5th finger. Polydactyly is sometimes present while radiologically the radial head may show evidence of hypoplasia.
Genetics
Inheritance
Homozygosity or compound heterozygosity in the CKAP2L gene (2q13) segregates with this phenotype.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.