The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by

somatic mosaicism Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized ...

) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including: * Capillary malformation-AV malformation syndrome *

Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Normally ...

Cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It is characterized by the following: *Distinctive facial appearance *Unusually sparse, brittle, curly scal ...

* Hereditary gingival fibromatosis type 1 * Neurofibromatosis type 1 *

Noonan syndrome 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. Facial features include widely spaced eyes, light-colored ...

Costello syndrome Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unu ...

, Noonan-like *

Legius syndrome Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots."Legius syndrome ...

, Noonan-like * Noonan syndrome with multiple

lentigines A lentigo () (plural lentigines, ) is a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread. This means the hyperplasi ...

, formerly called

LEOPARD syndrome Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (''PT ...

, Noonan-like * SYNGAP1-related intellectual disability

References

{{Medicine, state=collapsed Autosomal dominant disorders Congenital vascular defects Deficiencies of intracellular signaling peptides and proteins Developmental neuroscience Enzyme defects Genodermatoses Gross pathology Lymphocytic immune system disorders Melanocytic nevi and neoplasms Neuro-cardio-facial-cutaneous syndromes Neurological disorders Syndromes RASopathies Valvular heart disease