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Metaphyseal dysplasia without hypotrichosis

Synonyms
Cartilage-hair hypoplasia variant, skeletal manifestations only; Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; Metaphyseal Dysplasia without Hypotrichosis (MDWH)

Summary

Excerpted from the GeneReview: Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Outi Mäkitie
Svetlana Vakkilainen
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Available tests

58 tests are in the database for this condition.

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Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHH, NME1, RMRPR, RRP2, RMRP
    Summary: RNA component of mitochondrial RNA processing endoribonuclease

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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