Mietens syndrome

disorder

SNOMED 40291001CUI C0265249

Overview

Mietens 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.

Corneal opacity

Very frequent (80-99%)HP:0007957

Difficulty finding words

Very frequent (80-99%)HP:0002381

Echologia

Very frequent (80-99%)HP:0010529

Hypoplasia of the ulna

Very frequent (80-99%)HP:0003022

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Low intelligence

Very frequent (80-99%)HP:0001249

Mutism

Very frequent (80-99%)HP:0002300

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Radial ray hypoplasia

Very frequent (80-99%)HP:0002984

Short stature, severe

Very frequent (80-99%)HP:0003510

Small nose

Very frequent (80-99%)HP:0003196

Specific learning disability

Very frequent (80-99%)HP:0001328

Squint

Very frequent (80-99%)HP:0000486

Stiff joint

Very frequent (80-99%)HP:0001387

Ulnohumeral dislocation

Very frequent (80-99%)HP:0003042

Elbow ankylosis

Frequent (30-79%)HP:0003070

High forehead

Frequent (30-79%)HP:0000348

Increased nasal width

Frequent (30-79%)HP:0000445

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Abnormal fibula morphology

Occasional (5-29%)HP:0002991

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Coxa vara

Occasional (5-29%)HP:0002812

Decreased corneal diameter

Occasional (5-29%)HP:0000482

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Hardening of skin and connective tissue

Occasional (5-29%)HP:0000647

Intoe

Occasional (5-29%)HP:0001840

Lens opacities

Occasional (5-29%)HP:0000518

Mental retardation, mild

Occasional (5-29%)HP:0001256

Related Conditions

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

Quick Facts

SNOMED CT: 40291001
UMLS CUI: C0265249
Fully Specified Name: Mietens 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.