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GTR Home > Conditions/Phenotypes > Hypochondroplasia

Hypochondroplasia

Summary

Excerpted from the GeneReview: Hypochondroplasia
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or school-age children with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Michael B Bober
Gary A Bellus
Sarah M Nikkel
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Available tests

72 tests are in the database for this condition.

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Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
    Summary: fibroblast growth factor receptor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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