Noonan syndrome-like disorder with loose anagen hair

MONDO:0011899Mondo

Findings

No curated finding names Noonan syndrome-like disorder with loose anagen hair yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0011899), read 2026-09-29. CC BY 4.0.

Features

29 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)

Show the remaining 17

Hypertrophic cardiomyopathyHPOHP:0001639
- Frequent (30% to 79% of cases)
MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
Pulmonic stenosisHPOHP:0001642
- Frequent (30% to 79% of cases)
Abnormal fingernail morphologyHPOHP:0001231
- Occasional (5% to 29% of cases)
Abnormal intervertebral disk morphologyHPOHP:0005108
- Occasional (5% to 29% of cases)

Genes

3 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

PPP1CBHGNC:9282
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
SHOC2HGNC:15454
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
HRASHGNC:5173
- Disputed Evidence · ClinGen · Autosomal dominant · 2018

Where it sits

A kind of: loose anagen syndrome
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Noonan syndrome and Noonan-related syndrome
Narrower terms (2): Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome-like disorder with loose anagen hair 2

Other names

2 names

Resolves to: Noonan syndrome-like disorder with loose anagen hair

Also called: NS/LAHTosti syndrome