Filippi Syndrome
Patient Information
Characteristics
Background and History
Filippi syndrome is a rare, congenital, inherited malformation disorder involving multiple organs and systems in the body.
Clinical Correlations
Intrauterine growth is generally subnormal. A small head (microcephaly) is often noted at birth with some skin fusion between fingers 3 and 4, as well as toes 2, 3, and 4. Some patients have extra fingers and toes. The facial features, while not diagnostic, are often striking with a wide base to the nose causing the eyes to appear abnormally far apart and prominent. The eyelashes are long and thick and sometimes the eyebrows appear thick and bushy.
Some intellectual disability is present in most individuals (often mislabeled as mental retardation). Mental and physical growths are delayed with short stature and some impairment of mental function the result. A few patients have had seizures and some males have undescended testes. The finger and toe nails are often underdeveloped and the teeth are abnormally small or misshapen.
Genetics
Inheritance
This is an autosomal recessive disorder requiring the presence of gene changes (mutations) in both copies of a specific gene. Carriers such as parents are clinically normal but offspring of two such parents have a 25% risk of developing this condition.
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.
Diagnosis and Prognosis
This condition is evident at birth and thus a pediatrician or geneticist is likely to make the diagnosis. No treatment is available. Nothing is known about longevity.
Printer Friendly Version: Ctrl/Cmd+P