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Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of ...
Maffucci syndrome Ollier disease: Tufted phalanges: Hypohidrotic ectodermal dysplasia: Achondroplasia: Cartilage–hair hypoplasia: Metaphyseal widening: Menkes kinky hair syndrome: Long bone spurs: Menkes kinky hair syndrome: Absent patella: Nail–patella syndrome: Radial head subluxation: Nail–patella syndrome: Posterior iliac horns: Nail ...
16917 Ensembl ENSG00000136944 ENSMUSG00000038765 UniProt O60663 O88609 RefSeq (mRNA) NM_002316 NM_001174146 NM_001174147 NM_010725 RefSeq (protein) NP_001167617 NP_001167618 NP_002307 NP_034855 Location (UCSC) Chr 9: 126.61 – 126.7 Mb Chr 2: 33.45 – 33.53 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein ...
This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome. [35] Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome.
Severe congenital onychogryphosis affecting all twenty nailbeds has been recorded in two families who exhibit the dominant allele for a certain gene. [6] [7]Congenital onychogryphosis of the fifth toe (the baby, little, pinky or small toe) is fairly common, but asymptomatic and seldom brought to the attention of medical professionals.
Onychauxis frequently shows up clinically as discoloration, subungual hyperkeratosis, and loss of nail plate translucency. [3] It may cause pain, and over time, distal onycholysis, subungual bleeding, subungual ulceration, or an elevated risk of onychomycosis might aggravate matters. [4] [5]
Buoyed by promised pardons of their brethren for their Jan. 6 crimes and by Trump’s embrace of popular extremist far-right figures, those groups will likely see a resurgence after January ...
Tooth and nail syndrome (hypodontia with nail dysgenesis, Witkop syndrome) Townes–Brocks syndrome; Transient bullous dermolysis of the newborn Xeroderma pigmentosum; Treacher Collins syndrome (Treacher Collins–Franceschetti syndrome) Tricho–dento–osseous syndrome; Tricho–rhino–phalangeal syndrome; Tuberous sclerosis (Bourneville ...