Ad
related to: people born with rare deformities disease
Search results
Results From The WOW.Com Content Network
1 in 50,000 people [5] 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]
1 in 40,000 to 42,000 births, females more affected than males. 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 ...
Mui Thomas (born in 1992 in Hong Kong, 31 years old) qualified as the first rugby referee with harlequin ichthyosis. A female baby born in Nagpur, India, in June 2016 died after two days. She was the first case reported in India. Hannah Betts: Born 1989 in Great Britain; died in 2022 at 32 years old.
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.
Specialty. Medical genetics. Ectrodactyly, split hand, or cleft hand [1] (derived from Greek ektroma "miscarriage" and daktylos "finger") [2] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). [3] The hands and feet of people with ectrodactyly ...
polemilia. Polymelia is a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia. In humans and most land-dwelling vertebrates, this means having five or more limbs. The extra limb is most commonly shrunken and/or deformed. The term is from Greek πολυ- "many", μέλεα "limbs".
Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [3] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [3] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with ...
Achondroplasia is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. It is also the most common type of non-lethal osteochondrodysplasia or skeletal dysplasia. The prevalence is approximately 1 in 25,000 births. [6] Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 ...