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Klippel-Feil sequence

disorder
SNOMED 5601008CUI C0022738

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 vertebral segmentation and fusion
Very frequent (80-99%)HP:0005640
Abnormality of the vertebral column
Very frequent (80-99%)HP:0000925
Klippel-Feil syndrome
Very frequent (80-99%)HP:0004602
Limited neck mobility
Very frequent (80-99%)HP:0005986
Low posterior hair line
Very frequent (80-99%)HP:0002162
Pterygium colli
Very frequent (80-99%)HP:0000465
Short neck
Very frequent (80-99%)HP:0000470
Unbalanced face
Very frequent (80-99%)HP:0000324
Abnormality of the shoulder
Frequent (30-79%)HP:0003043
Headache
Frequent (30-79%)HP:0002315
Hearing impairment
Frequent (30-79%)HP:0000365
Neck pain
Frequent (30-79%)HP:0030833
Rib anomalies
Frequent (30-79%)HP:0000772
Scoliosis
Frequent (30-79%)HP:0002650
Spina bifida occulta
Frequent (30-79%)HP:0003298
Sprengel deformity
Frequent (30-79%)HP:0000912
Torticollis, congenital
Frequent (30-79%)HP:0005988
Urogenital abnormalities
Frequent (30-79%)HP:0000119
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of the cranial nerves
Occasional (5-29%)HP:0001291
Abnormality of the sacrum
Occasional (5-29%)HP:0005107
Anal atresia
Occasional (5-29%)HP:0002023
Cleft of palate
Occasional (5-29%)HP:0000175
Ectopic anus
Occasional (5-29%)HP:0004397
Ectopic kidney
Occasional (5-29%)HP:0000086
Intellectual impairment
Occasional (5-29%)HP:0100543
Paralysis or weakness of one side of body
Occasional (5-29%)HP:0004374
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
Spinal stenosis
Occasional (5-29%)HP:0003416
Split spine
Occasional (5-29%)HP:0002414

Related Conditions

Wildervanck's syndrome(child)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome(child)
Malformation sequence(parent)
Congenital fusion of spine(parent)
Congenital anomaly of cervical vertebra(parent)
Lesion of neck(parent)
Dysostosis(parent)
Genetic disease(parent)

Quick Facts

SNOMED CT
5601008
UMLS CUI
C0022738
Fully Specified Name
Klippel-Feil sequence (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.