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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.
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 ]
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.
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
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.
external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome teratogenic drugs (e.g. thalidomide , which causes phocomelia ) or environmental chemicals ionizing radiation ( nuclear weapons , radioiodine , radiation therapy )
Camptodactyly is a medical condition that causes one or more digits (fingers or toes) to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints . Camptodactyly can be caused by a genetic disorder .
The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. [8] About 80% of cases occur in children of parents without the disease, and result from a new ( de novo , or sporadic) mutation, which most commonly originates as a spontaneous change during ...