tall stature-scoliosis-macrodactyly of the great toes syndrome
Findings
No curated finding names tall stature-scoliosis-macrodactyly of the great toes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Definition from the Mondo Disease Ontology (MONDO:0014401), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Abnormal circulating beta-CTX concentrationHPOHP:0031424
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Elevated alkaline phosphatase of bone originHPOHP:0010639
- 1 of 1 reported patient
- Fifth finger distal phalanx clinodactylyHPOHP:0005769
- 1 of 1 reported patient
- Increased urinary type 1 collagen N-terminal telopeptide level
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.
- NPR2HGNC:7944
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: tall stature-scoliosis-macrodactyly of the great toes syndrome
- Also called
- tall stature-scoliosis-macrodactyly of the halluces syndrome