Search results
Results From The WOW.Com Content Network
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 ...
Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, in which are inherited in an autosomal dominant form. However, there is an autosomal recessive form. [4] Associated genes include COL9A1, [5] COL9A2, [6] COL9A3, [7] COMP, [8] and MATN3. [9] Types include:
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 ...
These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. [3] Skeletal dysplasia can result in marked functional limitation and even mortality. Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary ...
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.
It tends to occur sporadically with no obvious cause. However, RMS has been correlated with familial cancer syndromes and congenital abnormalities including neurofibromatosis type 1, [49] Beckwith-Wiedemann syndrome, [50] [51] Li–Fraumeni syndrome, [52] cardio-facio-cutaneous syndrome, [53] and Costello syndrome. [54]
Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification. [1]According to the Progressive Osseous Heteroplasia Association: