spondylometaphyseal dysplasia, Sedaghatian type
Findings
No curated finding names spondylometaphyseal dysplasia, Sedaghatian type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Definition from the Mondo Disease Ontology (MONDO:0009593), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal scapula morphologyHPOHP:0000782
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- Atrioventricular blockHPOHP:0001678
- Very frequent (80% to 99% of cases)
- Cardiorespiratory arrestHPOHP:0006543
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- Iliac crest serrationHPOHP:0008786
- Very frequent (80% to 99% of cases)
- Long fibulaHPOHP:0003085
- Very frequent (80% to 99% of cases)
- Metaphyseal chondrodysplasiaHPOHP:0005871
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Rhizomelic arm shorteningHPOHP:0004991
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Spondylometaphyseal dysplasiaHPOHP:0002657
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Narrow chestHPOHP:0000774
- 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.
- GPX4HGNC:4556
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021