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Wiedemann Steiner syndrome

disorder
SNOMED 763618001CUI C1854630

Overview

Wiedemann Steiner 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.

Dropped arches
Always present (100%)HP:0001763
Generalized hypertrichosis
Always present (100%)HP:0004554
Potato nose
Always present (100%)HP:0000414
Prominent digit pad
Always present (100%)HP:0011298
Psychomotor development deficiency
Always present (100%)HP:0001263
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Elbow hypertrichosis
Very frequent (80-99%)HP:0004780
Nasal tip, depressed
Very frequent (80-99%)HP:0000437
Speech delay
Very frequent (80-99%)HP:0000750
Thick hair
Very frequent (80-99%)HP:0100874
Abnormality of the elbow
Frequent (30-79%)HP:0009811
Behavioral symptoms
Frequent (30-79%)HP:0000708
Broad, upturned nose
Frequent (30-79%)HP:0000455
Columella, short
Frequent (30-79%)HP:0002000
Contracture of the distal interphalangeal joint of the fingers
Frequent (30-79%)HP:0009697
Cupid-bow shaped upper lip
Frequent (30-79%)HP:0002263
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased response to growth hormone stimulation test
Frequent (30-79%)HP:0000824
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed gross motor development
Frequent (30-79%)HP:0002194
Drooping brow
Frequent (30-79%)HP:0031623
Dyschezia
Frequent (30-79%)HP:0002019
Early bone maturation
Frequent (30-79%)HP:0005616
Eversion of lateral third of lower eyelids
Frequent (30-79%)HP:0007655
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Feeding difficulties
Frequent (30-79%)HP:0011968
Grey sclerae
Frequent (30-79%)HP:0000592
Growth delay as children
Frequent (30-79%)HP:0008897
hyperkinetic disorder
Frequent (30-79%)HP:0000752

Related Conditions

Congenital hypertrichosis(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Small stature(parent)
Hereditary disorder of the integument(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
763618001
UMLS CUI
C1854630
Fully Specified Name
Wiedemann Steiner 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.