Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

disorder

SNOMED 1217225001CUI C4225285

Overview

Klippel-Feil anomaly, myopathy, facial dysmorphism 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.

Bulbous nasal tip

Always present (100%)HP:0000414

Decreased size of cranium

Always present (100%)HP:0000252

Eye drop

Always present (100%)HP:0000508

Klippel-Feil syndrome

Always present (100%)HP:0004602

Low posterior hair line

Always present (100%)HP:0002162

Pterygium colli

Always present (100%)HP:0000465

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed motor milestones

Frequent (30-79%)HP:0001270

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High arched palate

Frequent (30-79%)HP:0000218

Increased length of philtrum

Frequent (30-79%)HP:0000343

Low-set ears

Frequent (30-79%)HP:0000369

Narrow forehead

Frequent (30-79%)HP:0000341

Protruding lower lip

Frequent (30-79%)HP:0000232

Small nasal alae

Frequent (30-79%)HP:0000430

Acetabular dysplasia

HP:0008807

Disease of the heart muscle

HP:0001638

Flexion contractures

HP:0001371

Myopathy

HP:0003198

Nemaline rods

HP:0003798

Short neck

HP:0000470

Thoracolumbar scoliosis

HP:0002944

Related Conditions

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal muscle(parent)

Klippel-Feil sequence(parent)

Quick Facts

SNOMED CT: 1217225001
UMLS CUI: C4225285
Fully Specified Name: Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.