Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
| Disorder | |
|---|---|
| OMIM #: | #213980 (Click to access OMIM database) |
| Disorder: | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome |
| Also known as: | CFSMR TMCO1 defect syndrome Cerebrofaciothoracic dysplasia (CFTD) |
| Clinical | |
| Phenotype: | brachycephaly, macrocephaly, long eyelashes, low hairline, low-set ears, synophrys, hypertelorism, midfacial hypoplasia, broad nasal bridge, anteverted nostrils, small or short nose, cleft palate, high-arched palate, late eruption of teeth, microdontia, chest defects, rib defects, vertebral defects, skeletal defects, developmental delay, hypotonia, motor and language delay, abnormal behaviours, other neural defects, some polyhydramnios |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | TMCO1 |
| Base Change: | c.292_293delAG |
| Amino Acid Change: | ser 98 --> term |
| Last updated: | 2023-02-01 |
| References |
|---|
| Batchelor-Regan H, Xin B, Zhou A, Wang H. (2021) From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1. Front Genet May 20;12:652400. PubMed ID: 34093650 |
| 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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