acromesomelic dysplasia 1, Maroteaux type
Findings
No curated finding names acromesomelic dysplasia 1, Maroteaux type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.
Definition from the Mondo Disease Ontology (MONDO:0011275), read 2026-09-29. CC BY 4.0.
Features
21 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.
- AcromesomeliaHPOHP:0003086
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- 9 of 9 reported patients
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Beaking of vertebral bodiesHPOHP:0004568
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
Show the remaining 9
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Ovoid vertebral bodiesHPOHP:0003300
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Sprengel anomalyHPOHP:0000912
- Frequent (30% to 79% 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.
- NPR2HGNC:7944
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: acromesomelic dysplasia 1, Maroteaux type
- Also called
- acromesomelic dysplasia, Maroteaux type