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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 ...
Dr. John Opitz, a former student of Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome. [ 47 ]
Print/export Download as PDF ... Familial multiple lentigines syndrome without systemic involvement [1] ... Noonan syndrome with multiple lentigines or Peutz ...
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 leukemia (JMML).
These are spotted areas created by accumulation in the skin due to sun exposure. Due to a high irregularity any distinction from randomness defines lentiginosis. Although lentigines are benign, they be the signal of an underlying problem such as progressive cardiomyopathic lentiginosis, which can cause retardation in children. [2]
Carney complex and its subsets LAMB syndrome [1] and NAME syndrome [1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. [2] [3] It is distinct from Carney's triad. Approximately 7% of all cardiac myxomas are associated with Carney complex. [4]
Centrofacial lentiginosis is a cutaneous condition characterized by lentigines on the nose and adjacent cheeks. [1]: 686 The condition is associated with sacral hypertrichosis, developmental delay, seizures, absent middle incisors, skeletal, abnormalities, dwarfism, endocrine dysfunction and congenital mitral valve stenosis. [2]
Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .