autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Findings
No curated finding names autosomal recessive spondylometaphyseal dysplasia, Megarbane type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
Definition from the Mondo Disease Ontology (MONDO:0013223), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
10 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 epiphyseal ossificationHPOHP:0002663
- 4 of 4 reported patients
- Flat acetabular roofHPOHP:0003180
- 4 of 4 reported patients
- Narrow chestHPOHP:0000774
- 4 of 4 reported patients
- Postnatal growth retardationHPOHP:0008897
- 4 of 4 reported patients
- Severe platyspondylyHPOHP:0004565
- 4 of 4 reported patients
- Short long boneHPOHP:0003026
- 4 of 4 reported patients
- Short ribsHPOHP:0000773
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.
- PAM16HGNC:29679
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: autosomal recessive spondylometaphyseal dysplasia, Megarbane type
- Also called
- PAM16 spondylodysplastic dysplasiaspondylodysplastic dysplasia caused by mutation in PAM16spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type