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Kniest dysplasia

disorder
SNOMED 53974002CUI C0265279

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.

Abnormal cartilage collagen
Always present (100%)HP:0008271
Genua vara
Always present (100%)HP:0002970
Near sighted
Always present (100%)HP:0000545
Pectus excavatum
Always present (100%)HP:0000767
Rhizomelic limb shortening
Always present (100%)HP:0008905
Tibial bowing
Always present (100%)HP:0002982
Zygomatic flattening
Always present (100%)HP:0000272
Abnormal bone structure
Very frequent (80-99%)HP:0003330
Abnormal shape of joints
Very frequent (80-99%)HP:0001367
Bell-shaped chest
Very frequent (80-99%)HP:0001591
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Degenerative vitreoretinopathy
Very frequent (80-99%)HP:0007964
Delayed maturation of end part of long bone
Very frequent (80-99%)HP:0002663
Disproportionate short stature
Very frequent (80-99%)HP:0003498
Flexion deformity of finger
Very frequent (80-99%)HP:0012785
Keratan sulphate excretion in urine
Very frequent (80-99%)HP:0012069
Prominent joints
Very frequent (80-99%)HP:0003037
Protruding eyes
Very frequent (80-99%)HP:0000520
Round, full face
Very frequent (80-99%)HP:0000311
Severe myopia
Very frequent (80-99%)HP:0011003
Stiff joint
Very frequent (80-99%)HP:0001387
Vitreoretinopathy
Very frequent (80-99%)HP:0007773
Abnormality of the epiphysis of the femoral head
Frequent (30-79%)HP:0010574
Absent/small extremities
Frequent (30-79%)HP:0009815
Aplasia/Hypoplasia of the lens
Frequent (30-79%)HP:0008063
Cervical spine instability
Frequent (30-79%)HP:0010646
Cleft of palate
Frequent (30-79%)HP:0000175
Disease of the joints
Frequent (30-79%)HP:0003040
Dumbbell widening of long bone metaphyses
Frequent (30-79%)HP:0000947
Enlarged metaphyses
Frequent (30-79%)HP:0003051

Related Conditions

Skeletal dysplasia(parent)
Congenital anomaly of skeletal bone(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Osteochondrodysplasia syndrome(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
53974002
UMLS CUI
C0265279
Fully Specified Name
Kniest 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.