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Autosomal dominant multiple pterygium syndrome; Other names: Distal arthrogryposis type 8 [1] Autosomal dominant multiple pterygium syndrome is inherited in an autosomal dominant fashion. Specialty: Dermatology
Bartsocas-Papas syndrome is a form of popliteal pterygium syndrome and is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. It was first described by Dr. Christos Bartsocas and is more specifically an autosomal recessive popliteal pterygium syndrome. [8]
PI3kinase. The pathophysiology of activated PI3K delta syndrome has several aspects. [2] The normal function has P110δ (PI3K) involved in immune system regulation. [9]P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous ...
Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, [1] or familial colorectal polyposis [2]) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. [ 3 ]
Malan syndrome (MALNS) is a rare overgrowth syndrome caused by autosomal dominant mutations in the NFIX gene. [1] The syndrome is characterized by overgrowth, craniofacial dysmorphia, intellectual disability, and behavioral issues. It was formerly diagnosed as Sotos syndrome 2. [2] [3]
Hyperimmunoglobulinemia E syndrome [1] (HIES), of which the autosomal dominant form is called Job's syndrome [1] or Buckley syndrome, [1] is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature.
While Wolfram syndrome tends to follow an autosomal recessive inheritance pattern, [35] Wolfram-like syndrome follows an autosomal dominant inheritance pattern. [36] In Wolfram syndrome, symptoms such as intellectual disabilities , ataxia , anosmia , ageusia , and/or sleep apnea , alongside other cardiac and/or endocrine symptoms [ 37 ] are ...
POLD exhibits noninflammatory demyelination of axons with initial symptoms of euphoria, apathy, headache, and executive dysfunction. While HDLS is autosomal dominant, some families with POLD have features that suggest autosomal recessive inheritance. [9] Nevertheless, POLD has recently been shown to have the same genetic basis as HDLS.