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Because polydactyly can be part of a syndrome (known genetic defect) or association (genetic defect not known), children with a congenital upper extremity deformity should be examined by a geneticist for other congenital anomalies. This should also be done if a syndrome is suspected, or if more than two or three generations of the family are ...
Ectrodactyly-polydactyly syndrome is a very rare congenital limb malformation syndrome of genetic origin which is characterized a combination of ectrodactyly and polydactyly [1] consisting of underdeveloped/absent central rays of the hands or feet alongside postaxial polydactyly in the same limb that can range from a hypoplastic, bone-devoid extra digit to a fully developed supernumerary digit ...
Medical genetics Absent tibia-polydactyly-arachnoid cyst syndrome , also known as Holmes-Collins syndrome , is a very rare multi-systemic hereditary disorder which is characterized by facial dysmorphisms, [ 1 ] pre/post-axial polydactyly , toe syndactyly , missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst .
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 ...
Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. [1]
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.
Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. [2] [3] Only 2 cases have been described in medical ...
Polydactyly-myopia syndrome, also known as Czeizel-Brooser syndrome, is a very rare genetic disorder which is characterized by post-axial polydactyly on all 4 limbs and progressive myopia. [1] Additional symptoms include bilateral congenital inguinal hernia and undescended testes. [ 2 ]