Tall stature-long halluces-multiple…

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Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Disease

Also called Tall stature-scoliosis-macrodactyly of the halluces syndrome

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

NPR2Disease-causing germline mutation(s) (gain of function)
NPR3Disease-causing germline mutation(s)

ICD-10 codes

Q87.3filed under a broader ICD-10 category — shared with 40 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0014401OMIM 615923OMIM 619543UMLS C4749503

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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