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Naked foal syndrome (NFS) is a genetic disorder specific to the Akhal-Teke horse breed. A rare genodermatosis , it is characterized by almost complete hairlessness and mild ichthyosis . The condition is inherited as a monogenic autosomal recessive trait, and affected horses typically die between a few weeks and three years of age.
Jeune syndrome is a rare genetic disorder that affects the way a child's cartilage and bones develop. It begins before the child is born and primarily affects the child's rib cage, pelvis, arms and legs. [5] Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome.
The Akhal-Teke, due to its natural athleticism, can be a sport horse, good at dressage, show jumping, eventing, racing, and endurance riding. A noted example was the Akhal-Teke stallion, Absent, who won the Grand Prix de Dressage at the 1960 Summer Olympics in Rome, while being ridden by Sergei Filatov.
Over time, affected children experience mental impairment, worsening seizures and progressive loss of sight, speech and motor skills. Batten disease is a terminal disease; life expectancy varies depending on the type or variation. [7] [8] Females with juvenile Batten disease show first symptoms a year later than males, but on average die a year ...
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs , shortened thorax , and moderate to severe scoliosis and kyphosis .
Okamoto syndrome was first described in 1997 by Nobuhiko Okamoto et al. from the Department of Medical Genetics at Osaka Women's and Children's Hospital after observing very similar symptoms and physical features in two unrelated Japanese infants. Both infants had congenital hydronephrosis due to ureteropelvic junction stenosis, low muscle tone ...
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.