Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brachydactyly
Very frequent (80-99%)HP:0001156
Broad distal phalanx of finger
Very frequent (80-99%)HP:0009836
Broad thumbs
Very frequent (80-99%)HP:0011304
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Dislocated femoral heads
Very frequent (80-99%)HP:0002827
Dislocations of the knees
Very frequent (80-99%)HP:0004976
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Joint ligamentous laxity
Very frequent (80-99%)HP:0001382
Large joint dislocations
Very frequent (80-99%)HP:0005008
Short nails
Very frequent (80-99%)HP:0001799
Spatulate thumbs
Very frequent (80-99%)HP:0001222
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Accessory carpal bones
Frequent (30-79%)HP:0004232
Elbow dislocation
Frequent (30-79%)HP:0003042
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Vertebral body fusion
Frequent (30-79%)HP:0002948
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Abnormality of the cardiovascular system
Occasional (5-29%)HP:0001626
Anomaly of the epiphyses
Occasional (5-29%)HP:0005930
Cervical vertebral anomalies
Occasional (5-29%)HP:0003319
Cleft of palate
Occasional (5-29%)HP:0000175
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Cryptorchidism
Occasional (5-29%)HP:0000028
Deafness
Occasional (5-29%)HP:0000365
Decreased body height
Occasional (5-29%)HP:0004322
Deformity of the skull
Occasional (5-29%)HP:0001363
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Laryngotracheomalacia
Occasional (5-29%)HP:0008755
Related Conditions
Multiple dislocations with dysplasia(parent)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Congenital anomaly of skeletal bone(parent)
Hereditary disorder of musculoskeletal system(parent)
Autosomal dominant hereditary disorder(parent)
Developmental hereditary disorder(parent)
Injury of face(parent)
BI - Bone injury(parent)
Quick Facts
- SNOMED CT
- 63387002
- UMLS CUI
- C0175778
- Fully Specified Name
- Larsen 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.