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GTR Home > Conditions/Phenotypes > Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Synonyms
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by Parry et al., 2013). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GSC1, SAMS, GSC
    Summary: goosecoid homeobox

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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