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Rhizomelic chondrodysplasia punctata syndrome
disorderSNOMED 56692003CUI C0282529
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dental problems
Very frequent (80-99%)HP:0000164
Dry skin
Very frequent (80-99%)HP:0000958
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Lens opacities
Very frequent (80-99%)HP:0000518
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Scoliosis
Very frequent (80-99%)HP:0002650
Short limbs
Very frequent (80-99%)HP:0009826
Sparse body hair
Very frequent (80-99%)HP:0002231
Very poor growth
Very frequent (80-99%)HP:0001510
Flat facial shape
Frequent (30-79%)HP:0012368
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Spina bifida occulta
Frequent (30-79%)HP:0003298
Hair loss
Occasional (5-29%)HP:0001596
Mental retardation, severe
Occasional (5-29%)HP:0010864
Calcific stippling of infantile cartilaginous skeleton
HP:0005841
Cerebral cortex atrophy
HP:0002120
Cleft of palate
HP:0000175
Congenital cataracts, bilateral
HP:0000519
coronal cleft of vertebrae
HP:0003417
Delayed CNS myelination
HP:0002188
Elevated circulating phytanic acid concentration
HP:0010571
Flat nasal bridge
HP:0005280
Flexion contractures
HP:0001371
Frontal protuberance
HP:0002007
Hypoplastic mandible condyle
HP:0000347
Related Conditions
Rhizomelic chondrodysplasia punctata type 1(child)
Rhizomelic chondrodysplasia punctata type 2(child)
Rhizomelic chondrodysplasia punctata type 3(child)
Chondrodysplasia punctata(parent)
Loss of multiple peroxisomal functions(parent)
Hereditary disorder of musculoskeletal system(parent)
Metabolic bone disease(parent)
Disorder of epiphysis(parent)
Developmental hereditary disorder(parent)
Congenital deformity of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 56692003
- UMLS CUI
- C0282529
- Fully Specified Name
- Rhizomelic chondrodysplasia punctata syndrome (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.