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GTR Home > Conditions/Phenotypes > Achondrogenesis, type IB

Achondrogenesis, type IB

Synonyms
Achondrogenesis Fraccaro type; Achondrogenesis Type 1B
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Achondrogenesis Type 1B
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sheila Unger
Andrea Superti-Furga
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Available tests

73 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (73 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, SLC26A2
    Summary: solute carrier family 26 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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