Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, cleft palate, soft tissue syndactyly of fingers and toes, and moderate to severe mental retardation. Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, Zerres syndrome, Kelly syndrome, and Woods syndrome. Each has as part of the phenotype craniofacial anomalies and soft tissue syndactyly of fingers and toes; and superficially, distinction among the 6 may be difficult. However, based on the phenotype analysis we performed, we conclude that our patient has Filippi syndrome, and thus is the first reported case from the United States.
Toriello
H V
HV
Genetics Services, Butterworth Hospital, Grand Rapids, Michigan, USA.
Higgins
J V
JV
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome