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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 ]
It is characterized by a nearly symmetrical presence of a spoon hand (classical type) or, more frequently, an oligodactylous hand. Individuals with this syndrome present the following symptoms: carpal , metacarpal and digital synostoses , disorganization of carpal bones, numeric reduction of digital rays and toe syndactyly .
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.
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.
The disease was first described by Maroteaux and Lamy in 1962 [4] [5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. [6]
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 ...
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
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).