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Microcephalic osteodysplastic dysplasia Saul Wilson type
disorderSNOMED 723404002CUI C4509877
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bulging forehead
Always present (100%)HP:0011220
Growth delay as children
Always present (100%)HP:0008897
Overtubulated long bones
Always present (100%)HP:0006391
Prominent veins
Always present (100%)HP:0001015
Short long bone of foot
Always present (100%)HP:0010743
Shortened long bones of hand
Always present (100%)HP:0010049
Splayed metaphyses
Always present (100%)HP:0003015
Valgus hip
Always present (100%)HP:0002673
Widened, distorted epiphyses
Always present (100%)HP:0010580
Wider-than-typical soft spot of skull
Always present (100%)HP:0000260
Accessory proximal metacarpal ossification centers
Very frequent (80-99%)HP:0009193
Anterior bulging of the globe of eye
Very frequent (80-99%)HP:0000520
Cone-shaped epiphyses of the fingers
Very frequent (80-99%)HP:0010230
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Fetal foot inversion
Very frequent (80-99%)HP:0001762
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hooked nose
Very frequent (80-99%)HP:0000444
Hypoplasia of proximal fibula
Very frequent (80-99%)HP:0006442
Hypoplastic hands
Very frequent (80-99%)HP:0004279
Irregularity of vertebral bodies
Very frequent (80-99%)HP:0004582
Lens opacities
Very frequent (80-99%)HP:0000518
Nasal bridge, thin
Very frequent (80-99%)HP:0000446
Overhanging nasal tip
Very frequent (80-99%)HP:0011833
Small odontoid peg
Very frequent (80-99%)HP:0003311
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Osteodysplastic primordial dwarfism(parent)
Hereditary disorder of musculoskeletal system(parent)
Osteoplastic dysplasia(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Quick Facts
- SNOMED CT
- 723404002
- UMLS CUI
- C4509877
- Fully Specified Name
- Microcephalic osteodysplastic dysplasia Saul Wilson type (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.