Marshall syndrome
Findings
No curated finding names Marshall syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Definition from the Mondo Disease Ontology (MONDO:0007949), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
53 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.
- CataractHPOHP:0000518
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 9 of 9 reported patients
- MyopiaHPOHP:0000545
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 9 of 9 reported patients · Childhood onset
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
Show the remaining 41
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Thick lower lip vermilionHPOHP:0000179
- Very frequent (80% to 99% of cases)
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.
- COL11A1HGNC:2186
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021