Cerebrofaciothoracic dysplasia

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.9%)		 24194475
 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Erguner B, Utine E, Hacariz O, Kiper PO, Taskran EZ, Percin F, Uz E, Sagiroglu M, Yuksel B, Boduroglu K, Akarsu NA.
Am J Med Genet A. 2014;164A(2):291-304.
Brachycephaly Flat face Cleft lip
TMCC1
c|SUB|C|259|T;RS#:201213306 p|SUB|R|87|X;RS#:201213306 rs1247427997 rs1553249737 rs201213306 rs786204789
Bone and Bones Brain Calcium Channel Child, Preschool Chromosome Mapping DNA Mutational Analysis Exome Facies Fatal Outcome Females Gene Expression Gene Order Genes, Recessive Homo sapiens Homozygote Infant Intellectual Disability Magnetic Resonance Imaging Male Membrane Proteins Phenotype Pregnancy Pregnancy Outcome
2
(4.0%)		 15724898
 Ophthalmologic findings in cerebrofaciothoracic dysplasia.
Bouzas EA, Karadimas P, Kanaka-Gantenbein C, Papastathopoulos C, Dimitrakos S, Mastorakos G.
J Pediatr Ophthalmol Strabismus. 2005;42(1):47-51.
Hypertelorism
Adult Child Eye Abnormalities Face Females Homo sapiens Intellectual Disability Male Retinal Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000289 Broad philtrum Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000892 Bifid ribs Very frequent (99-80%)
HP:0000902 Rib fusion Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002079 Hypoplasia of the corpus callosum Very frequent (99-80%)
HP:0002937 Hemivertebrae Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0000912 Sprengel anomaly Frequent (79-30%)
HP:0001320 Cerebellar vermis hypoplasia Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002208 Coarse hair Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0010720 Abnormal hair pattern Frequent (79-30%)
HP:0100790 Hernia Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000204 Cleft upper lip Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001249 Intellectual disability 1
HP:0011504 Bull's eye maculopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TMCO1 transmembrane and coiled-coil domains 1 54499