Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Synonyms: SAMS syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature conductive hearing loss due to bilateral auditory canal atresia mandibular hypoplasia and multiple skeletal abnormalities including bilateral humeral hypoplasia humeroscapular synostosis delayed pubis rami ossification central dislocation of the hips and proximal femora defects as well as bilateral talipes equinovarus proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly malar hypoplasia high-arched palate and simple dysplastic pinnae with prearicular pits/tags.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome?
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Advocacy Organizations
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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