Wiedemann-Steiner syndrome

MONDO:0011518Mondo

Findings

No curated finding names Wiedemann-Steiner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.

Definition from the Mondo Disease Ontology (MONDO:0011518), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Childhood onset

Features

96 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Generalized hirsutismHPOHP:0002230
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
Generalized hypertrichosisHPOHP:0004554
- 1 of 1 reported patient
Global developmental delayHPOHP:0001263
- 11 of 11 reported patients

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

KMT2AHGNC:7132
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary disease
multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Other names

1 name

Resolves to: Wiedemann-Steiner syndrome

Also called: hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Show the remaining 84

Thick eyebrowHPOHP:0000574
- 11 of 12 reported patients
- Frequent (30% to 79% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- 10 of 12 reported patients
Elbow hypertrichosisHPOHP:0004780
- 10 of 12 reported patients
Wide nasal bridgeHPOHP:0000431
- 9 of 11 reported patients
- Frequent (30% to 79% of cases)
Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
Depressed nasal tipHPOHP:0000437
- 4 of 5 reported patients
Thick hairHPOHP:0100874
- 4 of 5 reported patients
Broad nasal tipHPOHP:0000455
- 9 of 12 reported patients
Narrow palpebral fissureHPOHP:0045025
- 8 of 11 reported patients
Highly arched eyebrowHPOHP:0002553
- 4 of 6 reported patients
Low posterior hairlineHPOHP:0002162
- 4 of 6 reported patients
Thin upper lip vermilionHPOHP:0000219
- 7 of 11 reported patients
- Frequent (30% to 79% of cases)
Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
Accelerated skeletal maturationHPOHP:0005616
- 0 of 5 reported patients
- Frequent (30% to 79% of cases)
Aggressive behaviorHPOHP:0000718
- 3 of 11 reported patients
- Frequent (30% to 79% of cases)
AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
Blue scleraeHPOHP:0000592
- 3 of 5 reported patients
Congenital, generalized hypertrichosisHPOHP:0004540
- Frequent (30% to 79% of cases)
Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
Feeding difficultiesHPOHP:0011968
- 5 of 11 reported patients
- Frequent (30% to 79% of cases)
HyperactivityHPOHP:0000752
- 2 of 11 reported patients
- Frequent (30% to 79% of cases)
HypertelorismHPOHP:0000316
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
HypotoniaHPOHP:0001252
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
Intrauterine growth retardationHPOHP:0001511
- 3 of 5 reported patients
- Occasional (5% to 29% of cases)
Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
Low frustration toleranceHPOHP:0000744
- Frequent (30% to 79% of cases)
MicrognathiaHPOHP:0000347
- 3 of 5 reported patients
Motor stereotypyHPOHP:0000733
- Frequent (30% to 79% of cases)
Prominent foreheadHPOHP:0011220
- 3 of 5 reported patients
Round faceHPOHP:0000311
- Frequent (30% to 79% of cases)
Sacral dimpleHPOHP:0000960
- 6 of 10 reported patients
- Occasional (5% to 29% of cases)
Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
Short palpebral fissureHPOHP:0012745
- 1 of 10 reported patients
- Frequent (30% to 79% of cases)
Tapered fingerHPOHP:0001182
- 6 of 11 reported patients
- Frequent (30% to 79% of cases)
ConstipationHPOHP:0002019
- 6 of 11 reported patients
Exaggerated cupid's bowHPOHP:0002263
- 6 of 11 reported patients
Short columellaHPOHP:0002000
- 2 of 4 reported patients
Brow ptosisHPOHP:0031623
- 2 of 5 reported patients
Contracture of the distal interphalangeal joint of the fingersHPOHP:0009697
- 2 of 5 reported patients
EpicanthusHPOHP:0000286
- 2 of 5 reported patients
- Occasional (5% to 29% of cases)
Eversion of lateral third of lower eyelidsHPOHP:0007655
- 2 of 5 reported patients
High palateHPOHP:0000218
- 2 of 5 reported patients
- Occasional (5% to 29% of cases)
Long palpebral fissureHPOHP:0000637
- 2 of 5 reported patients
Short 5th fingerHPOHP:0009237
- 2 of 5 reported patients
StrabismusHPOHP:0000486
- 2 of 5 reported patients
Abnormal corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
Abnormality of the handHPOHP:0001155
- Occasional (5% to 29% of cases)
Aplasia/Hypoplasia of the ribsHPOHP:0006712
- Occasional (5% to 29% of cases)
ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
Dilatation of renal calicesHPOHP:0100581
- Occasional (5% to 29% of cases)
DolichocephalyHPOHP:0000268
- Occasional (5% to 29% of cases)
Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Flat faceHPOHP:0012368
- Occasional (5% to 29% of cases)
Gastroesophageal refluxHPOHP:0002020
- Occasional (5% to 29% of cases)
High foreheadHPOHP:0000348
- Occasional (5% to 29% of cases)
Hyperextensibility at elbowHPOHP:0010485
- Occasional (5% to 29% of cases)
Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
MicrocephalyHPOHP:0000252
- 1 of 5 reported patients
- Occasional (5% to 29% of cases)
Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
Psychomotor deteriorationHPOHP:0002361
- Occasional (5% to 29% of cases)
PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
RhizomeliaHPOHP:0008905
- Occasional (5% to 29% of cases)
SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Short noseHPOHP:0003196
- Occasional (5% to 29% of cases)
TelecanthusHPOHP:0000506
- Occasional (5% to 29% of cases)
Webbed neckHPOHP:0000465
- Occasional (5% to 29% of cases)
2-3 toe syndactylyHPOHP:0004691
- 4 of 11 reported patients
Broad lateral eyebrowHPOHP:0007933
- 4 of 11 reported patients
Sleep disturbanceHPOHP:0002360
- 4 of 11 reported patients
HypodontiaHPOHP:0000668
- 1 of 3 reported patients
Long halluxHPOHP:0001847
- 3 of 11 reported patients
CryptorchidismHPOHP:0000028
- 1 of 4 reported patients
Small handHPOHP:0200055
- 1 of 4 reported patients
Joint hypermobilityHPOHP:0001382
- 1 of 5 reported patients
Recurrent otitis mediaHPOHP:0000403
- 1 of 5 reported patients
AutismHPOHP:0000717
- 2 of 11 reported patients
Atrial septal defectHPOHP:0001631
- 1 of 6 reported patients
Patent ductus arteriosusHPOHP:0001643
- 1 of 6 reported patients
ScoliosisHPOHP:0002650
- 1 of 11 reported patients