Lenz-Majewski hyperostotic dwarfism
Findings
No curated finding names Lenz-Majewski hyperostotic dwarfism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Definition from the Mondo Disease Ontology (MONDO:0007892), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
75 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.
- Broad clavicleHPOHP:0000916
- 5 of 5 reported patients
- Broad foreheadHPOHP:0000337
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Male
- Frequent (30% to 79% of cases)
- Cutaneous finger syndactylyHPOHP:0010554
- 5 of 5 reported patients
- Cutis laxaHPOHP:0000973
- 5 of 5 reported patients
- Delayed cranial suture closureHPOHP:0000270
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 63
- Prominent foreheadHPOHP:0011220
- 5 of 5 reported patients
- Proximal finger symphalangismHPOHP:0006152
- 5 of 5 reported patients
- Sparse hairHPOHP:0008070
- 4 of 4 reported patients
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
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.
- PTDSS1HGNC:9587
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022