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Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.
Features include very common findings: Posteriorly rotated ears, Webbed neck, Low posterior hairline, and Sparse scalp hair and others; and common findings: Hydrocephalus, Epicanthus, Macrotia, and Anteverted nares and others. 29 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Abnormal palate morphology, Thick lower lip vermilion |
Biomarker and diagnostic research for Noonan syndrome-like disorder with loose anagen hair has been reported in the published literature.
Phenotype severity distribution: 7 very common features, 9 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Noonan syndrome-like disorder with loose anagen hair.
18 publications have been identified in PubMed for Noonan syndrome-like disorder with loose anagen hair. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 39% |
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:39 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Noonan syndrome-like disorder with loose anagen hair
Brain and nerves |
2 |
Hydrocephalus, Intellectual disability |
Arms and legs | 2 | Abnormal fingernail morphology, Hypoplastic toenails |
Ears | 1 | Hearing loss (hearing impairment) |
Heart and blood vessels | 1 | Thickened heart muscle (hypertrophic cardiomyopathy) |
Bones and joints | 1 | Delayed skeletal maturation |
Growth and development | 1 | Short stature |
Age of onset: at birth.
Research summaries |
3 |
17% |
Disease patterns and progression | 3 | 17% |
Patient case studies | 2 | 11% |
Clinical study results | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
León-Madero LF (2026). [PMID: 42181216](https://pubmed.ncbi.nlm.nih.gov/42181216/). *Mol Syndromol*. [Diagnostic / Biomarker]
Wilson P (2026). [PMID: 41946973](https://pubmed.ncbi.nlm.nih.gov/41946973/). *Cell Death Differ*. [Basic Science / Preclinical]
Vukajlović JT (2026). [PMID: 42007559](https://pubmed.ncbi.nlm.nih.gov/42007559/). *Mutagenesis*. [Basic Science / Preclinical]
Perez SM (2026). [PMID: 41848703](https://pubmed.ncbi.nlm.nih.gov/41848703/). *Ann Plast Surg*. [Review / Meta-Analysis]
Wilson P (2025). [PMID: 40196569](https://pubmed.ncbi.nlm.nih.gov/40196569/). *bioRxiv*. [Basic Science / Preclinical]
Menentoğlu B (2025). [PMID: 40085019](https://pubmed.ncbi.nlm.nih.gov/40085019/). *Rheumatology (Oxford)*. [Case Report / Case Series]
Zhou MH (2025). [PMID: 41176255](https://pubmed.ncbi.nlm.nih.gov/41176255/). *J Am Acad Dermatol*. [Review / Meta-Analysis]
Bowen CM (2025). [PMID: 39946195](https://pubmed.ncbi.nlm.nih.gov/39946195/). *JCI Insight*. [Basic Science / Preclinical]
Sechi A (2025). [PMID: 39731451](https://pubmed.ncbi.nlm.nih.gov/39731451/). *Pediatr Dermatol*. [Case Report / Case Series]
Curtis KL (2025). [PMID: 40692045](https://pubmed.ncbi.nlm.nih.gov/40692045/). *J Am Acad Dermatol*. [Epidemiology / Natural History]