Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
| Disorder | |
|---|---|
| OMIM #: | #602471 (Click to access OMIM database) |
| Disorder: | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities |
| Also known as: | SAMS |
| Clinical | |
| Phenotype: | short stature, external auditory canal atresia, mandibular hypoplasia, skeletal defects, ossification abnormalities, feeding difficulties, respiratory tract infections, hypotelorism, slanted palpebral fissures, micrognathia, contractures, hearing impairment |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | GSC |
| Base Change: | C>T, at nucleotide 400 |
| Amino Acid Change: | gln 134 --> term |
| Last updated: | 2023-02-02 |
| 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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