Watson syndrome is a rare genetic condition characterised by café-au-lait patches of skin, short stature,

pulmonary stenosis Pulmonic stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood. Signs and symptoms Some individuals with mild PS may not experience any sympt ...

developmental delays Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive ...

, and learning difficulties. Its inheritance is

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

, and it may also occur with Lisch nodules of the ocular

iris Iris most often refers to: *Iris (anatomy), part of the eye * Iris (color), an ambiguous color term *Iris (mythology), a Greek goddess * ''Iris'' (plant), a genus of flowering plants * Iris (given name), a feminine given name, and a list of peopl ...

, axillary/inguinal freckling, and

neurofibroma A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in ...

s. Watson syndrome is caused by mutations in the ''NF1'' gene, the same gene associated with

neurofibromatosis type 1 Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, e ...

. It is believed that Watson syndrome and neurofibromatosis-1 result from

allelic An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. Alleles can differ at a single position through single nucleotide polymorphisms (SNP), but they can also have insertions and deletions ...

mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosi ...

at the ''NF1'' locus''.'' Watson syndrome has sometimes been described as a 'milder form' of neurofibromatosis-1 due to shared features including mutation of the ''NF1'' gene, café-au-lait patches, and neurofibroma, variably presenting with similar

cognitive Cognition is the "mental action or process of acquiring knowledge and understanding through thought, experience, and the senses". It encompasses all aspects of intellectual functions and processes such as: perception, attention, thought, ...

and physiological features to

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 ...

, a genetic condition resulting in developmental delays, learning disability, cardiovascular abnormalities, and short stature. The

pathophysiology Pathophysiology (or physiopathology) is a branch of study, at the intersection of pathology and physiology, concerning disordered physiological processes that cause, result from, or are otherwise associated with a disease or injury. Pathology is ...

of all three conditions fits into the

RASopathy The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnorm ...

model.

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Genodermatoses Rare syndromes {{Genodermatoses-stub

See also

References

External links