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Polydactyly also occurs in modern extant reptiles [82] and amphibians. [83] Polydactyly was a non-pathological, reacquired condition in extinct marine reptiles such as ichthyosaurs and hupehsuchians, some of which containing upwards of ten digits within their flippers. [84]
Synpolydactyly is a combination of syndactyly and polydactyly. This image shows the hand morphology of an individual with polydactyly. SPD is inherited in an autosomal dominant pattern, meaning that an individual only needs to inherit one copy of the affected gene, also known as an allele, from either parent to potentially develop the condition.
The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is caused by a Gcps and a Gli3 gene mutation. It can ...
Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
The hand of a person with Greig cephalopolysyndactyly with syndactyly of several digits. Syndactyly can be simple or complex. [2] In simple syndactyly, adjacent fingers or toes are joined by soft tissue. In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete.
Polysyndactyly is typically inherited, in an autosomal dominant pattern. [2] [6] [9] The specific mutations leading to polysyndactyly are varied between among types of the condition and different families. However, many cases are caused by changes to genetic elements affecting the signaling molecule Sonic Hedgehog (SHH).
Ellis–Van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability.
Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms ; external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome; teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals