Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)

Alias:

Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Sams

Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Sams Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities, also known as short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, is related to spinal arteriovenous metameric syndrome and synostosis. An important gene associated with Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities is GSC (Goosecoid Homeobox). Affiliated tissues include bone and testes.

Related ID：

MALACARDS：SHR109

OMIM：602471

MESH：D001848