lateral meningocele syndrome
MONDO:0007537Mondo
Findings
No curated finding names lateral meningocele syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
59 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.
- Coarse hairHPOHP:0002208
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Hypernasal speechHPOHP:0001611
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Joint hypermobilityHPOHP:0001382
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
Show the remaining 47
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Dural ectasiaHPOHP:0100775
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- High, narrow palateHPOHP:0002705
- Very frequent (80% to 99% of cases)
- MeningoceleHPOHP:0002435
Genes
1 gene
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.
- NOTCH3HGNC:7883
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: lateral meningocele syndrome
- Also called
- Lehman syndrome