Nail-patella syndrome

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Definition from OMD (Online Medical Dictionary):

nail-patella syndrome

<radiology> Fong syndrome, hereditary arthrodysplasia, J.W. Turner syndrome, autosomal dominant Features: abnormal fingernails, absent/hypoplastic patella, defects in radial head, iliac horns (bony processes along posterior surfaces of iliac bones), discoloration of iris

(12 Dec 1998)


Nail-patella syndrome Classification and external resources
Nail of a patient the nail-patella syndrome
ICD-10	Q87.2
ICD-9	756.89
OMIM	161200
DiseasesDB	8773
eMedicine	ped/1546 derm/813
MeSH	C05.550.629

Nail-patella syndrome (NPS) is a genetic disorder that is also referred to as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome.

Nail-patella syndrome is inherited in an autosomal dominant pattern.

The Nail-Patella syndrome is inherited via autosomal dominancy (see autosomal dominant) linked to aberrancy on human Chromo some 9's q arm (q stands for longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for disorder to be expressed in the offspring, meaning that the chance of getting the disorder from an affected parent is 50%. The frequency of the occurrence is 1/50,000. The disorder is linked to the ABO blood group locus.

The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Sometimes, this disease causes the affected person to have either no thumbnails or a small piece of a thumbnail on the edge of the thumb. Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Also, some research shows that people with NPS are more prone to glaucoma and scoliosis, due to poorly developed spines.

People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Signs even vary within a single family with multiple affected members.

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