Amish, Mennonite, and Hutterite
Genetic Disorder Database

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)

Disorder
OMIM #: #602471  (Click to access OMIM database)
Disorder: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) 
Also known as:  
Clinical
Phenotype: short stature, atresia of the external auditory canal, mandibular hypoplasia, skeletal abnormalities, ossification abnormalities, feeding difficulties, respiratory tract infections, hypotelorism, slanted palpebral fissures, micrognathia, joint limitation and/or contractures, hearing impairment 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite  
Gene: GSC
Base Change: C>T, at nucleotide 400
Amino Acid Change: gln 134 --> term
Last updated: 2017-05-05 

References
Lemire EG, Hildes-Ripstein GE, Reed MH, Chudley AE. (1998) SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. Am J Med Genet Jan 23;75(3):256-60.
PubMed ID: 9475592 
Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA. (2013) SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. Am J Hum Genet Dec 5;93(6):1135-42.
PubMed ID: 24290375 

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