Noonan Like Syndrome

Last update 08 May 2025

Basic Info

Synonyms

NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder), Noonan Syndrome With Pigmented Villonodular Synovitis, Noonan like syndrome

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Introduction-

100 Clinical Results associated with Noonan Like Syndrome

100 Translational Medicine associated with Noonan Like Syndrome

0 Patents (Medical) associated with Noonan Like Syndrome

Literatures (Medical) associated with Noonan Like Syndrome

17 Mar 2025·Zhonghua er ke za zhi = Chinese journal of pediatrics

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

Article

Author: Song, F Y ; Shangguan, S F ; Liu, Z Q ; Lai, J M ; Ye, X ; Huang, S Y ; Gao, K ; Wang, X O ; Wang, P C ; Du, M

Objective: To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair(NS-LAH). Methods: A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients' demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics. Results: Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense mutations in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C(p.M173I). Additionally, one patient was found to have a heterozygous missense mutation c.146C>G(p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual incerases of 11.8, 8.4 and 13.0 cm, respectnely. Among the 4 patients with SHOC2 mutations, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis. Conclusions: Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic mutation in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

01 Jul 2024·Translational Pediatrics

Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up

Article

Author: Lai, Jianming ; Liu, Ziqin ; Song, Fuying

BackgroundNoonan syndrome (NS) and Noonan-like syndrome with loose anagen hair (NS/LAH) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. The aim of this retrospective study was to describe common and rare manifestations of NS and NS/LAH.MethodsWe collected and analyzed clinical and genetic data from 25 patients with NS and NS/LAH.ResultsThe patients' median age was 6.3 years (range, 1-13 years), and the male-to-female ratio was 18:7. In total, 19 patients had NS caused by a mutation in PTPN11. Another causative gene was found in six patients, including two patients with a SHOC2 mutation, one patient with a KRAS mutation, one patient with an LZTR1 mutation, one patient with a BRAF mutation, and one patient with a PPP1CB mutation. Short stature was detected in 100% of the patients. This study provides an overview of the clinical features of NS, including unique facial features, short stature, congenital heart defects, and other manifestations. Notably, systemic lupus erythematosus (SLE) was found in two SHOC2-positive patients. One patient had a posterior urethral valve, which is very rare in NS patients.ConclusionsOur study identified several clinical features that were previously poorly related to NS, including SLE. We concluded that SHOC2-related NS is associated with a particularly high risk of SLE, which may have a significant impact on quality of life, and a posterior urethral valve is a novel phenotype. These findings could be helpful in enhancing the understanding of the clinical spectrum of NS.

01 May 2024·Clinical Genetics

The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy

Article

Author: Shatokhina, Olga ; Bostanova, Fatima ; Bulakh, Maria ; Beresneva, Anastasia ; Ryzhkova, Oxana

AbstractThe RREB1 is a zinc finger transcription factor that plays a role in regulating gene expression and inactivating MAPK signalling components. To date, no pathogenic variant in the RREB1 gene has been associated with any disease, but several cases of 6p terminal deletions affecting the RREB1 gene have been reported. In this study, we report the first case of RREB1‐associated Noonan‐like RASopathy caused by a pathogenic variant within this gene. Genetic testing included whole‐genome sequencing (WGS) of the proband and Sanger sequencing of the proband, his parents, and his sibling. The proband had a de novo c.2677del, p.(Ala893Argfs*20) variant, likely resulting in RREB1 haploinsufficiency. Comparative analysis of patients with microdeletions, including in the RREB1 gene, confirmed shared clinical traits while highlighting unique features, such as blue sclerae and absence of cardiac anomalies. This study reinforces previous data on RREB1 haploinsufficiency as the driver of a new Noonan‐like RASopathy variant, which includes intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms as key clinical indicators. These findings shed light on this RREB1‐related syndrome and underscore the necessity for further investigation into the functional consequences of RREB1 mutations.

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Noonan Like Syndrome

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