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Typically the mutated gene is involved in developmental patterning, and a syndrome of congenital anomalies results, of which polydactyly is one feature or two. [citation needed] Polydactyly has been linked to the prenatal environment in a 2020 study showing a relationship to maternal PM10 pollution exposure in China. [25] Types include:
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).
Polydactyly (from Greek πολυ-poly-'many') is when a limb has more than the usual number of digits. This can be: As a result of congenital abnormality in a normally pentadactyl animal. Polydactyly is very common among domestic cats. For more information, see polydactyly.
Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull, [16] [17] fusion of certain fingers or toes, [16] [18] and/or more than ...
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.
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.
The most common problem with syndactyly correction is creeping of the skin towards the fingertip over time. This is likely due to tension at the site of the repair between the digits. Additional surgery may be required to correct this. One critique of using skin grafts is that the grafts darken in the years after surgery and become more noticeable.