diaphanospondylodysostosis
Findings
No curated finding names diaphanospondylodysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0011946), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
18 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.
- Absent in utero ossification of vertebral bodiesHPOHP:0008435
- 2 of 2 reported patients
- Decreased skull ossificationHPOHP:0004331
- 3 of 3 reported patients
- Delayed vertebral ossificationHPOHP:0031096
- 3 of 3 reported patients
- Abnormal vertebral segmentation and fusionHPOHP:0005640
- Very frequent (80% to 99% of cases)
- Absent or minimally ossified vertebral bodiesHPOHP:0004599
- 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.
- BMPERHGNC:24154
- Definitive · G2P · Autosomal recessive · 2023
- 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: diaphanospondylodysostosis
- Also called
- vertebral ossification, defect in, with nephrogenic rests