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Features include always present findings: Short stature, Relative macrocephaly, Joint hypermobility, and Global developmental delay and others; and very common findings: Generalized hypotonia, Prominent forehead, Intellectual disability, and Posteriorly rotated ears and others. 60 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 5 | Hyperpigmentation of the skin, Eczematoid dermatitis, Thickened, rough skin (hyperkeratosis) |
SHOC2 function has not been fully characterized.
Noonan syndrome-like disorder with loose anagen hair 1 is associated with mutations in the SHOC2 gene on chromosome 10.
Genetic testing for SHOC2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Noonan syndrome-like disorder with loose anagen hair 1 has been reported in the published literature.
Phenotype severity distribution: 11 always present features, 7 very common features, 23 common features.
No clinical trials have been registered for Noonan syndrome-like disorder with loose anagen hair 1.
19 publications have been identified in PubMed for Noonan syndrome-like disorder with loose anagen hair 1. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 29% |
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 12:39 AM UTC
Online Mendelian Inheritance in Man
Common questions about Noonan syndrome-like disorder with loose anagen hair 1
Heart and blood vessels | 4 | Aortic regurgitation, Ventricular septal defect, Thickened heart muscle (hypertrophic cardiomyopathy) |
Head and neck | 3 | Relative macrocephaly, High palate, Macrocephaly |
Brain and nerves | 3 | Intellectual disability, Global developmental delay, Hypernasal speech |
Eyes | 2 | Strabismus, Ptosis |
Growth and development | 2 | Short stature, Failure to thrive |
Muscles | 1 | Generalized hypotonia |
Blood and immune system | 1 | Blood clotting problems (abnormality of coagulation) |
Digestive system | 1 | Feeding difficulties |
Bones and joints | 1 | Joint hypermobility |
Laboratory research |
5 |
29% |
Research summaries | 2 | 12% |
Disease patterns and progression | 2 | 12% |
Other research | 1 | 6% |
Testing and diagnosis research | 1 | 6% |
Clinical study results | 1 | 6% |
León-Madero LF (2026). [PMID: 42181216](https://pubmed.ncbi.nlm.nih.gov/42181216/). *Mol Syndromol*. [Diagnostic / Biomarker]
Corso BM (2026). [PMID: 41675685](https://pubmed.ncbi.nlm.nih.gov/41675685/). *Mol Syndromol*. [Case Report / Case Series]
Perez SM (2026). [PMID: 41848703](https://pubmed.ncbi.nlm.nih.gov/41848703/). *Ann Plast Surg*. [Review / Meta-Analysis]
Vukajlović JT (2026). [PMID: 42007559](https://pubmed.ncbi.nlm.nih.gov/42007559/). *Mutagenesis*. [Basic Science / Preclinical]
Kochar IS (2026). [PMID: 42059183](https://pubmed.ncbi.nlm.nih.gov/42059183/). *Clin Dysmorphol*. [Case Report / Case Series]
Bowen CM (2025). [PMID: 39946195](https://pubmed.ncbi.nlm.nih.gov/39946195/). *JCI Insight*. [Basic Science / Preclinical]
Menentoğlu B (2025). [PMID: 40085019](https://pubmed.ncbi.nlm.nih.gov/40085019/). *Rheumatology (Oxford)*. [Case Report / Case Series]
Pohl NB (2025). [PMID: 40206912](https://pubmed.ncbi.nlm.nih.gov/40206912/). *Cureus*. [Clinical Trial Publication]
Zhou MH (2025). [PMID: 41176255](https://pubmed.ncbi.nlm.nih.gov/41176255/). *J Am Acad Dermatol*. [Review / Meta-Analysis]
Wilson P (2025). [PMID: 40196569](https://pubmed.ncbi.nlm.nih.gov/40196569/). *bioRxiv*. [Basic Science / Preclinical]