Overview
Diaphanospondylodysostosis is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent in utero ossification of vertebral bodies
Always present (100%)HP:0008435
Delayed vertebral ossification
Always present (100%)HP:0031096
Poorly ossified skull
Always present (100%)HP:0004331
Abnormal vertebral segmentation and fusion
Very frequent (80-99%)HP:0005640
Absent or minimally ossified vertebral bodies
Very frequent (80-99%)HP:0004599
Multiple kidney cysts
Very frequent (80-99%)HP:0005562
Myelomeningocele
Very frequent (80-99%)HP:0002475
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Wide thorax
Very frequent (80-99%)HP:0100625
Absence of foetal nasal bone
Frequent (30-79%)HP:0025706
Fetal foot inversion
Frequent (30-79%)HP:0001762
Fused kidneys
Frequent (30-79%)HP:0000085
Increased nuchal translucency
Frequent (30-79%)HP:0010880
Abdominal protuberance
HP:0001538
Abnormal spinal segmentation
HP:0003422
Absent in utero rib ossification
HP:0006615
Anomalous liver lobulation
HP:0100752
Bell-shaped chest
HP:0001591
Bilateral cystic dysplasia
HP:0000800
Cleft of palate
HP:0000175
Cognitive delay
HP:0001263
Decreased amniotic fluid index
HP:0001562
Decreased projection of mandible
HP:0000347
Depressed nasal root/bridge
HP:0005280
Enlarged kidney
HP:0000105
Floppy windpipe
HP:0002779
Generalised decreased muscle tone
HP:0001290
Hammertoe
HP:0001765
Increased distance between eyes
HP:0000316
Inguinal hernia
HP:0000023
Quick Facts
- SNOMED CT
- 721094006
- UMLS CUI
- C1842691
- Fully Specified Name
- Diaphanospondylodysostosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.