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Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1]
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Legius syndrome, also known as NF1-like syndrome; Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome; SYNGAP1-related intellectual disability; Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic ...
Noonan syndrome is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits.
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [ 1 ] They are associated with the development of the pharyngeal arches . [ 2 ]
Short rib–polydactyly syndrome is a family of four closely related dysplasias: I – "Saldino-Noonan type" II – "Majewski type" III – "Verma-Naumoff type" ...
Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification. [1]According to the Progressive Osseous Heteroplasia Association:
N syndrome; N-Acetylglutamate synthase deficiency; N-acetyl-alpha-D-galactosaminidase; N-acetyl-glucosamine-6-sulfate sulfatase deficiency; NADH CoQ reductase, deficiency of; NADH cytochrome B5 reductase deficiency; Naegeli–Franceschetti–Jadassohn syndrome; Naguib syndrome; Nail–patella syndrome; Nakajo–Nishimura syndrome; Nakajo syndrome