U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Atelosteogenesis type II

Atelosteogenesis type II

Synonyms
Atelosteogenesis type 2; NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: SLC26A2-Related Atelosteogenesis
Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported.
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:
Andrea Superti-Furga
Sheila Unger
view full author information

Available tests

69 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (69 available)

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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.