Amish, Mennonite, and Hutterite
Genetic Disorder Database

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR)

Disorder
OMIM #: #213980  (Click to access OMIM database)
Disorder: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) 
Also known as: TMCO1 defect syndrome 
Clinical
Phenotype: flat facies, low-set ears, cleft lip, cleft palate, eyebrows extending to midline, hypertelorism, broad nasal bridge, anteverted nostrils, small or short nose, other teeth anomalies, pectus excavatum or carinatum, other vertebral defects, rib defects other than small thorax, urogenital anomalies, cryptorchidism, tremors, ataxia, developmental delay/mental retardation, higharched palate, long eyelashes, low hairline, renal agenesis, hydrocele, vesicoureteral reflux, brachycephaly 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TMCO1
Base Change: c.292_293delAG
Amino Acid Change: ser 98 --> term
2   Amish  
Gene: TMCO1
Base Change: c.139_140delAG
Amino Acid Change:
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  
Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. (2010) Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci USA 107(1):258-63.
PubMed ID: 20018682 

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