Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Birth weight less than 10th percentile
Always present (100%)HP:0001518
Dwarfism, short-limbed
Always present (100%)HP:0008873
Abnormal clavicles
Very frequent (80-99%)HP:0000889
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Big calvaria
Very frequent (80-99%)HP:0000256
Bowed long bones
Very frequent (80-99%)HP:0006487
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Micromelia
Very frequent (80-99%)HP:0002983
Neonatal short-limbed dwarfism
Very frequent (80-99%)HP:0008921
Prominent ear lobes
Very frequent (80-99%)HP:0009748
Rib anomalies
Very frequent (80-99%)HP:0000772
Scoliosis
Very frequent (80-99%)HP:0002650
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Underdeveloped cervical vertebrae
Very frequent (80-99%)HP:0008434
Cervical kyphosis
Frequent (30-79%)HP:0002947
Cervical spina bifida
Frequent (30-79%)HP:0005857
Cleft of palate
Frequent (30-79%)HP:0000175
Developmental dysplasia of the hip
Frequent (30-79%)HP:0001385
Dislocated patellae
Frequent (30-79%)HP:0002999
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Genu valga
Frequent (30-79%)HP:0002857
Grey sclerae
Frequent (30-79%)HP:0000592
Hitchhiker thumb
Frequent (30-79%)HP:0001234
Related Conditions
Small stature(parent)
Congenital anomaly of skeletal bone(parent)
Recessive hereditary disorder (autosomal)(parent)
Micromelia(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Skeletal dysplasia(parent)
Contracture of multiple joints(parent)
Multiple system malformation syndrome(parent)
Quick Facts
- SNOMED CT
- 58561002
- UMLS CUI
- C0220726
- Fully Specified Name
- Diastrophic dysplasia (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.