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CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Spinal muscular atrophy is a genetic condition set in motion before birth that causes worsening muscle weakness. There are four types of the disorder, each with varying degrees of severity.
rare, about 18 cases have been described in medical literature Deaths Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia (which consists of platyspondyly , tubular bone shortening, and progressive cupping of the metaphyses), neonatal growth delays, and cone-rod ...
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
PAPA syndrome is inherited in an autosomal dominant fashion, which means that if one parent is affected, there is a 100% chance that a child will inherit the disease from a homozygous affected parent and a 50% chance that a child will inherit the disease from an affected heterozygous parent. [citation needed]
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. [3]
Any pregnant woman can have a child with trisomy 18, but the odds go up as a woman gets older. Trisomy 18 is usually so severe that babies who survive after birth are given comfort care, the ...