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Cerebrofaciothoracic Dysplasia

Known as: CFSMR, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceBrachycephalyByzanthine arch palateCongenital fusion of ribs

Broader (2)

Intellectual DisabilityMultiple congenital anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic… 
Review
2014
Review
2014
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome… 
2013
2013
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.
Summary Cerebrofaciothoracic dysplasia (CFTD) (MIM%213980),also known as Pascual-Castroviejo type I syndrome, is anextremely rare… 
2008
2008
Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations
To the Editor: Spondylocarpotarsal synostosis (SCT) syndrome (OMIM #272460), also known as congenital synspondylism, is a rare… 
2005
2005
Ophthalmologic findings in cerebrofaciothoracic dysplasia.
We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial… 
1992
1992
Cerebrofaciothoracic dysplasia: a new family.
We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs… 
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