Overview
Sponastrime dysplasia 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.
Abnormality of the backbone
Very frequent (80-99%)HP:0000925
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Deformity of face
Very frequent (80-99%)HP:0001999
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Hypotrophic midface
Very frequent (80-99%)HP:0011800
Biconcave 'codfish' vertebrae
Frequent (30-79%)HP:0004586
Brachydactyly
Frequent (30-79%)HP:0001156
Genu valga
Frequent (30-79%)HP:0002857
Hypoplastic femoral neck
Frequent (30-79%)HP:0100864
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Irregular metaphyses
Frequent (30-79%)HP:0003025
Low birth weight
Frequent (30-79%)HP:0001518
Low intelligence
Frequent (30-79%)HP:0001249
Metaphyseal striations
Frequent (30-79%)HP:0031367
Rhizomelic limb shortening
Frequent (30-79%)HP:0008905
Short limbs
Frequent (30-79%)HP:0009826
Absence of the nasal bone
Occasional (5-29%)HP:0010941
Broad foot
Occasional (5-29%)HP:0001769
Broad palm
Occasional (5-29%)HP:0001169
Cataract
Occasional (5-29%)HP:0000518
Cerebral aneurysm
Occasional (5-29%)HP:0004944
Chiari malformation
Occasional (5-29%)HP:0002308
Cognitive delay
Occasional (5-29%)HP:0001263
Coxa vara
Occasional (5-29%)HP:0002812
Decreased circulating immunoglobulin concentration
Occasional (5-29%)HP:0004313
Delayed eruption of permanent teeth
Occasional (5-29%)HP:0000696
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Epiphyseal ossification delay
Occasional (5-29%)HP:0002663
Fallen arches
Occasional (5-29%)HP:0001763
Related Conditions
Quick Facts
- SNOMED CT
- 389161008
- UMLS CUI
- C1300260
- Fully Specified Name
- Sponastrime 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.