Polydactyly and hallux duplication in a 1-day-old infant due to acrocallosal syndrome.
Specialty
Medical genetics
Symptoms
Agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation with hypotonia, polydactyly
Duration
Lifelong
Causes
Mutations in KIF7 or GLI3
Frequency
Fewer than 50 cases[1][2]
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms.[3] The syndrome was first described by Albert Schinzel in 1979.[4] Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.[5]
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and 16 Related for: Acrocallosal syndrome information
Acrocallosalsyndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple...
years. Some syndromes often associated with ACC include Aicardi syndrome, Andermann syndrome, Shapiro syndrome, and acrocallosalsyndrome. ACC is usually...
up acls in Wiktionary, the free dictionary. ACLS may refer to: Acrocallosalsyndrome, a genetic disease Advanced cardiac life support, a set of clinical...
syndactyly Down syndrome It is also associated with a number of rare conditions, notably: Aarskog–Scott syndromeAcrocallosalsyndrome Apert syndrome Bardet–Biedl...
Examples of syndromes include Diamond-Blackfan anemia, and the VACTERL association, acrocallosalsyndrome, basal cell nevus syndrome, Biemond syndrome, ectrodactyly-ectodermal...
coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in...
a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...
that is significant. These diseases include: acrocallosalsyndrome, carpenter syndrome, and Gorlin syndrome. The main treatment is surgery to fix the abnormalities...
et al. Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosalsyndromes and expand the ciliopathy spectrum. Nat Genet 2011, in press. Citations...
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