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DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (the WAC gene). [1] The condition was first described in 2015 in six individuals. [ 2 ]
Gradually joint pain may develop, which may limit the person's ability to move. [1] Complications may include collapse of the bone or nearby joint surface. [1] Risk factors include bone fractures, joint dislocations, alcoholism, and the use of high-dose steroids. [1] The condition may also occur without any clear reason. [1]
The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay. [1]
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. [3] [4] It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, [5] or it may be used to describe the premature fusion of all sutures. [2] It should be differentiated from Crouzon syndrome.
As of 2017 the cause of the disease was not understood. [1] A 2024 review by Braud and Lipsker aimed to "describe what is currently known about the pathogenesis of this peculiar disease, as well as to address its diagnosis and management" and concluded that "physiopathology of Schnitzler syndrome remains elusive" and "the main question regarding the relationship between the autoinflammatory ...
"The symptoms of this disorder usually appear in childhood, especially when children learn how to do basic math," the clinic says. "However, many adults have dyscalculia and don't know it.
The flashy girl from Flushings has done it again! Fran Drescher stunned in head-to-toe Dolce & Gabbana at the 2025 Golden Globe Awards in Beverly Hills, Calif. on Sunday, Jan. 5.. The Nanny star ...
This disorder was recognized as a distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. [12] [13] A new name, macrocephaly-capillary malformation, abbreviated M-CM, was recommended in 2007. [14] This new name was chosen to more accurately describe the skin markings associated with this disorder.