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

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]

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Disease or Syndrome

Scapulohumeral synostosis

Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. [from HPO]

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