Myhre syndrome
Findings
No curated finding names Myhre syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
Definition from the Mondo Disease Ontology (MONDO:0007688), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
87 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.
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Enlarged vertebral pediclesHPOHP:0004621
- 10 of 10 reported patients
- Generalized muscle hypertrophyHPOHP:0003720
- 12 of 12 reported patients
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Hypoplastic iliac wingHPOHP:0002866
- 8 of 8 reported patients
- Joint stiffness
Show the remaining 75
- Mandibular prognathiaHPOHP:0000303
- 20 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- 11 of 11 reported patients
- Short long boneHPOHP:0003026
- 9 of 9 reported patients
- Short palmHPOHP:0004279
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Short philtrumHPOHP:0000322
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.
- SMAD4HGNC:6770
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Myhre syndrome
- Also called
- facial dysmorphism-intellectual disability-short stature-hearing loss syndrome