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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 ...
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 ...
Oligodactyly is therefore the opposite of polydactyly. [2] [3] Very rare, this medical condition usually has a genetic or familial cause. [3] [4] Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. [5] It is a type of dysmelia.
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]
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
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
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 .