syndactyly
description
syndactyly is a descriptive term denoting fusion of two or more digits. the degree of fusion is complete if it extends to the tips of the fingers, partial if short of that. it is defined as simple if the fingers are bound together only by skin and complicated if there is synostosis between adjacent bones or sharing of neurovascular structures. syndactyly may be associated with various syndromes, including apert syndrome. when encountered as an isolated malformation, five autosomal dominant types can be clearly delineated: type i (zygodactyly) has cutaneous syndactyly up to the nails of the long and ring fingers and toes 2 and 3. type ii (synpolydactyly) also involves the long and ring fingers, 4th and 5th toes, but there is an extra digit hidden in the web (central polydactyly). type iii involves the ring and little fingers with a rudimentary middle phalanx in the latter. the toes are not affected. in type iv (hass) all the fingers, including the thumb, are fused so that the hand is in a cup-like position; the feet also display postaxial polydactyly. type v (mc/mt synostosis) involves the long and ring fingers and 2nd and 3rd toes. there is fusion of 4th and 5th metacarpals and metatarsals.
diagnosis
prenatal diagnosis of syndactyly depends on the type encountered and gestational age of the fetus. as a rule, syndactyly of the hands may be more easily diagnosed than that of the feet. cutaneous syndactyly may be inferred from the failure of the digits to separate during an extended realtime examination; cross sectional examination of the digits, especially at more advanced gestational ages, may also demonstrate skin fusion. on a longitudinal scan the fused fingers appear as single entity with broad base and distal tapering (triangular shape). bone synostosis may be diagnosed by noting partial or total apposition of the diaphyseal aspect of the phalanges and by observing the presence of unossified epiphyseal cartilage (which will be echolucent) of two adjacent fingers with no intervening soft tissue.
differential diagnosis
apert syndrome and the other varieties of acrocephalosyndactyly feature the typical craniostenotic changes in the skull. in the eec syndrome there is typically a cleft lip/palate and ectrodactyly. isolated syndactyly may represent one of the autosomal dominant syndromes previously described or one of a variety of syndromes which feature other abnormalities not detectable on ultrasound. syndactyly in association with multiple congenital anomalies can be seen in fetuses with chromosomal abnormalities, so karyotyping may be appropriate. the oro-facio-digital syndromes i and ii feature partial clefts and grooves of the upper lip.
sonographic features
fusion of two or more digits (skin only or skin and bone)
absence of separation of two or more digits
triangular shape with broad base and distal tapering
associated anomalies include polydactyly, oligodactyly, ectrodactyly, constriction bands
associated syndromic features, symmetric syndactyly, craniosynostosis, typical facial features of apert syndrome.
associated syndromes
- acrocallosal
- apert (acrocephalo-syndactyly)
- carpenter (acrocephalo-polysyndactyly)
- escobar (multiple pterygium syndrome)
- fraser
- greig
- holt-oram
- jarcho-levin (spondylocostal dysplasia -types 1 and 11)
- neu-laxova
- oto-palato-digital type 11
- pallister-hall
- pfeiffer
- poland anomaly
- roberts
- smith-lemli-opitz
- triploidy
references
taybi h, lachman rs in: radiology of syndromes, metabolic disorders, and skeletal dysplasias year book medical publishers inc, 3rd edition, p 876
goldberg m in: the dysmorphic child. an orthopedic perspective raven press, p 264-297