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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.
This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome (TIS). Diagnosis of Jeune syndrome can be made as early as before birth if signs and symptoms are apparent on an ultrasound; however, diagnosis after birth usually occurs through X-rays and genetic testing, such as the tests found on the Genetic Testing ...
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.
The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the ...
Prepubertal hypertrichosis is characterized by an excess of hair growth, seen during birth and progressing during childhood. [3] [6] In generalized hypertrichosis, excessive hair growth occurs all over the body, whereas in localized hypertrichosis, excessive hair growth only occurs in certain areas of the body. [2]
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2 ]
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. [ 1 ] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with ...
Landau–Kleffner syndrome (LKS), also called infantile acquired aphasia, acquired epileptic aphasia, [1] or aphasia with convulsive disorder, is a rare neurological syndrome that develops during childhood. [2] It is named after William Landau and Frank Kleffner, who characterized it in 1957 with a diagnosis of six children. [3] [4]