Overview
Desbuquois syndrome 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.
Growth deficiency
Always present (100%)HP:0001510
Intrauterine growth retardation, IUGR
Always present (100%)HP:0001511
Obesity
Always present (100%)HP:0001513
Prominent swayback
Always present (100%)HP:0003307
Retromicrognathia
Always present (100%)HP:0000308
Round facies
Always present (100%)HP:0000311
Zygomatic flattening
Always present (100%)HP:0000272
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormality of the femoral neck or head region
Very frequent (80-99%)HP:0003366
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Bell-shaped chest
Very frequent (80-99%)HP:0001591
Dislocated patellae
Very frequent (80-99%)HP:0002999
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Early bone maturation
Very frequent (80-99%)HP:0005616
Glaucoma
Very frequent (80-99%)HP:0000501
Loose-jointedness
Very frequent (80-99%)HP:0001382
Low intelligence
Very frequent (80-99%)HP:0001249
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Protruding eyes
Very frequent (80-99%)HP:0000520
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Radially deviated index finger
Very frequent (80-99%)HP:0009467
Short neck
Very frequent (80-99%)HP:0000470
Short stature, severe
Very frequent (80-99%)HP:0003510
Abnormality of the eyelashes
Frequent (30-79%)HP:0000499
Back knee
Frequent (30-79%)HP:0002816
Boxer's nose deformity
Frequent (30-79%)HP:0011120
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Coxa vara
Frequent (30-79%)HP:0002812
Disproportionately small hands
Frequent (30-79%)HP:0200055
Flat philtrum
Frequent (30-79%)HP:0000319
Related Conditions
Multiple dislocations with dysplasia(parent)
Congenital anomaly of skeletal bone(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Developmental hereditary disorder(parent)
Injury of face(parent)
BI - Bone injury(parent)
Quick Facts
- SNOMED CT
- 254099008
- UMLS CUI
- C0432242
- Fully Specified Name
- Desbuquois 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.