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Kuskokwim syndrome

disorder
SNOMED 702447002CUI C1859709

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ankle flexion contracture
Always present (100%)HP:0006466
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Flexion contractures of knees
Always present (100%)HP:0006380
Increased susceptibility to fractures
Always present (100%)HP:0002659
Osteoporosis
Always present (100%)HP:0000939
Gait disturbance
Very frequent (80-99%)HP:0001288
Small to absent patellae
Very frequent (80-99%)HP:0006498
Stiff joint
Very frequent (80-99%)HP:0001387
Talipes foot deformities
Frequent (30-79%)HP:0001883
Abnormal clavicles
Occasional (5-29%)HP:0000889
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Absent/underdeveloped radius
Occasional (5-29%)HP:0006501
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Nevocellular nevi
Occasional (5-29%)HP:0000995
Reduced tendon reflexes
Occasional (5-29%)HP:0001315
Abnormal sclera morphology
Excluded (<1%)HP:0000591
Abnormally indented hip sockets
HP:0003179
anterior wedging
HP:0008422
Coxa vara
HP:0002812
Decreased body height
HP:0004322
Dental anomalies
Excluded (<1%)HP:0000164
Fetal foot inversion
HP:0001762
Flattened vertebral bodies
HP:0000926
Flexion contractures of hips
HP:0003273
Hearing abnormality
Excluded (<1%)HP:0000364
Hunched back
HP:0002808
Ligamentous laxity
HP:0001382
Pectus carinatum
HP:0000768
Pterygia
HP:0001059

Quick Facts

SNOMED CT
702447002
UMLS CUI
C1859709
Fully Specified Name
Arthrogryposis-like syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
29
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.