Overview
Kyphomelic 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.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Bowed long bones
Very frequent (80-99%)HP:0006487
Low chest circumference
Very frequent (80-99%)HP:0000774
Short stature, severe disproportionate
Very frequent (80-99%)HP:0003498
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Wavy ribs
Very frequent (80-99%)HP:0010561
Hook-shaped clavicle
Frequent (30-79%)HP:0000895
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Missing ribs
Frequent (30-79%)HP:0000921
Stiff joint
Frequent (30-79%)HP:0001387
Disproportionately large hands
Occasional (5-29%)HP:0001176
Muscular hypotonia
Occasional (5-29%)HP:0001252
Acetabular angle flat
HP:0003180
Anteriorly splayed ribs
HP:0000907
Bowed femura
HP:0002980
Cleft of palate
HP:0000175
Cleft of upper lip
HP:0000204
Concave bridge of nose
HP:0005280
Dumbbell-shaped humerus
HP:0005009
Flat facial shape
HP:0012368
Flattened vertebral bodies
HP:0000926
Foot, talipes equinovarus
HP:0001762
High forehead
HP:0000348
Humeral bowing
HP:0003865
Humeral hypoplasia
HP:0005792
Hypoplastic mandible
HP:0000347
Low-set ears
HP:0000369
Micromelia
HP:0002983
Pterygia
HP:0001059
Related Conditions
Quick Facts
- SNOMED CT
- 254096001
- UMLS CUI
- C0432239
- Fully Specified Name
- Kyphomelic 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.