Marshall-Smith syndrome
Findings
No curated finding names Marshall-Smith syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
Definition from the Mondo Disease Ontology (MONDO:0011244), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
109 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.
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 29 of 29 reported patients
- High foreheadHPOHP:0000348
- 28 of 28 reported patients
- Intellectual disabilityHPOHP:0001249
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Prominence of the premaxillaHPOHP:0010759
- 28 of 28 reported patients
Show the remaining 97
- HypertrichosisHPOHP:0000998
- 23 of 28 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
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.
- NFIXHGNC:7788
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Marshall-Smith syndrome
- Also called
- accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome