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Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
According to National Organization for Rare Disorders (NORD), individuals carrying phocomelia syndrome will generally show symptoms of growth retardation previous to and after birth. The syndrome can also cause severe mental deficiencies in infants.
Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [1] : 578 It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low ...
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects.
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
Signs and symptoms. Typically, the nose is either missing or not functional. This deformity (called proboscis) forms above the center eye and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly. [3] Most such embryos are either naturally miscarried or are stillborn upon delivery .
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain , in the embryo is disrupted.
Hall-Riggs syndrome is a rare genetic disorder that causes neurological issues and birth defects. People with Hall-Riggs syndrome usually have skeletal dysplasia, facial deformities, and intellectual disabilities. Only 8 cases from 2 families worldwide have been described in medical literature.
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification [ edit ] Classification of sirenomelia by the presence or absence of bones within the lower limb.