Mandibulofacial Acrofacial dysostosis

Gene: GSC

Green List (high evidence)

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.

Three unrelated families reported in 2013.

Created: 31 Jul 2021, 6:12 a.m. | Last Modified: 31 Jul 2021, 6:12 a.m.

Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

Publications

• 24290375