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tall stature-scoliosis-macrodactyly of the great toes syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tall stature-scoliosis-macrodactyly of the great toes syndrome

MONDO:0014401

Also known as:tall stature-scoliosis-macrodactyly of the halluces syndromeECDMMiura type epiphyseal chondrodysplasia

Overview

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.

GeneticsAutosomal dominant · NPR2 (chr 9)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased urinary type 1 collagen N-terminal telopeptide level, Arachnodactyly, Tall stature, and Elevated alkaline phosphatase of bone origin and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Elevated alkaline phosphatase of bone origin, Sideways curvature of the spine (scoliosis), Mild bone density loss (osteopenia)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NPR2 encodes natriuretic peptide receptor 2 (1,047 aa). Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth Highest expression in Cervix Ectocervix (78.3 TPM) and Artery Aorta (67.0 TPM).

Tall stature-scoliosis-macrodactyly of the great toes syndrome is associated with mutations in the NPR2 gene on chromosome 9.

NPR2 is classified as a druggable target (Druggable Genome and Kinase categories) with score 5.8.

Diagnosis

Genetic testing for NPR2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 6:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615923

Orphanet

European rare disease database

Orphanet:329191

GARD

Genetic and Rare Diseases Info Center

GARD:17495

Questions for Your Care Team

→Should I pursue genetic testing for NPR2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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tall stature-scoliosis-macrodactyly of the great toes syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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