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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.
The Akhal-Teke has a refined head with predominantly a straight or slightly convex profile, and long ears. It can also have almond-shaped or "hooded" eyes. [45] The mane and tail are usually sparse. The long back is lightly muscled, and is coupled to a flat croup and long, upright neck. The Akhal-Teke possess sloping shoulders and thin skin.
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An affected foal is usually born without clinical signs, but at some stage, usually after six weeks of age, develops severe incoordination, a head tremor, wide-legged stance and other symptoms related to the death of the purkinje cells in the cerebellum. Such foals are frequently diagnosed only after they have crashed into a fence or fallen ...
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 ...
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible ...
The symptoms would appear at birth or shortly after birth. The combination of physical symptoms on the child would suggest they have CHILD syndrome. A skin sample examined under a microscope would suggest the characteristics of the syndrome and an X-ray of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help ...
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.