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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.
Craniofacial and other features of LFS include: maxillary hypoplasia (underdevelopment of the upper jaw bone), [9] a small mandible (lower jaw bone) and receding chin, [3] [17] a high-arched palate (the roof of the mouth), with crowding and misalignment of the upper teeth; [5] [7] macrocephaly (enlarged skull) with a prominent forehead, [3] [9 ...
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 .
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. [1] [2] [3] Individuals with the condition can also have mental retardation, flat face, coarse hair, or camptodactyly. [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 ...
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 ...