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Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. [ 2 ]
Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs. An example is polydactyly , where a foot or hand has more than 5 digits. Clubfoot , one of the most common congenital deformities of the lower limbs, occurs approximately 1 in 1000 births.
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. Ectrodactyly is an extreme instance of oligodactyly, involving the absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). [6]
Cenani–Lenz syndactylism is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Dysmelia can be caused by [citation needed]. Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms ()
Common physical symptoms show a short leg, the ankle and foot being short and deformed, absence of rays and bowing of the tibia. [4] Another physical symptom is the presence of contralateral oligosyndactyly of the hand. [1] Hecht Scott syndrome is also associated with psychosocial morbidity and mortality. [4]
Acheiropodia was first described in Brazil in 1929 [4] and the variations in expression (the range in severity and type of signs and symptoms experienced by patients), namely the presence or absence of digits on upper limbs or the Bohomeletz bone (a small, elongated bone located at the upper limb tips, parallel to the humerus and suggested to be what would have developed into the ulna), were ...
Emery-Nelson syndrome Familial syndrome of short stature, deformities of the hands and feet, and unusual facies Hand and foot deformity with flat facies is a rare congenital malformation syndrome , where an individual has features such as facial dysmorphism , short stature , and other malformations with the limbs.