Oculofaciocardiodental syndrome

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.



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Narrow down the case reports



Total: 22 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(47.6%)		 8723122
 Oculo-facio-cardio-dental (OFCD) syndrome.
Gorlin RJ, Marashi AH, Obwegeser HL.
Am J Med Genet. 1996;63(1):290-2.
Narrow face Syndactyly
Adult Cleft Palate Congenital Heart Defects Cuspid Eye Abnormalities Face Females Genes, Lethal Homo sapiens Male Syndactyly Syndrome Tooth Abnormalities Vagina X Chromosome
2
(38.7%)		 22449596
 Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics.
Sakaguchi K, Yagi T, Nagata J, Kubota T, Sugihara K, Miyawaki S.
Am J Orthod Dentofacial Orthop. 2012;141(4 Suppl):S159-70.
Narrow face Overbite Ankylosis
Brain Cataract Cephalometry Chewing Congenital Heart Defects Cuspid Females Heart Septal Defects Homo sapiens Malocclusion Microphthalmos Odontometry Orthodontics, Corrective Osteotomy, Sagittal Split Ramus Palatal Expansion Technique Tooth Abnormalities Young Adult
3
(33.7%)		 10069716
 Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.
Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A.
Am J Med Genet. 1999;82(5):429-35.
Narrow face Long philtrum
rs148195891 rs1555913206 rs1555919769 rs909942650
Adult Congenital Heart Defects Eye Abnormalities Face Females Glaucoma Homo sapiens Panoramic Radiography Phenotype Syndrome Tooth Abnormalities
4
(31.0%)		 29058245
 Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.
Zhou Y, Wojcik A, Sanders VR, Rahmani B, Kurup SP.
Int Ophthalmol. 2018;38(6):2677-2682.
Cataract Syndactyly
Blepharoptosis Cataract Eye Abnormalities Females Heart Septal Defects Homo sapiens Infant Microphthalmos Proto-Oncogene Proteins Repressor Proteins Retrospective Studies
4
(31.0%)		 22301464
 A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N.
J Hum Genet. 2012;57(3):197-201.
Cataract Toe syndactyly
c|DEL|888|G p|FS|N|297|I|80
Adult Base Sequence Brain Cataract Child Chromosome Breakpoints Congenital Heart Defects DNA Copy Number Variations Females Gene Order Haplotypes Heart Septal Defects Heterozygote Homo sapiens Membrane Proteins Microphthalmos Mutation Nuclear Proteins Protein Isoforms Proto-Oncogene Proteins Repressor Proteins
6
(27.8%)		 30544426
 New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.
Kato J, Kushima K, Kushima F.
Medicine (Baltimore). 2018;97(49):e13444.
Pulp stones
BCOR CUX1
c|SUB|G|265|A;RS#:754807742
Cataract Child Females Heart Septal Defects Homo sapiens Incisor Microphthalmos Mutation Orthodontics, Corrective Proto-Oncogene Proteins Repressor Proteins Tooth Abnormalities
6
(27.8%)		 19040819
 Dental management of a patient with oculo-facio-cardio-dental syndrome.
Cogulu D, Ertugrul F.
J Dent Child (Chic). 2008;75(3):306-8.
Narrow face Persistence of primary teeth
Child Congenital Heart Defects Dental Care for Chronically Ill Eye Abnormalities Facies Females Genetic Diseases, X-Linked Homo sapiens Orthodontics, Corrective Syndrome
6
(27.8%)		 14697064
 A case of oculo-facio-cardio-dental syndrome with integrated orthodontic-prosthodontic treatment.
Kawamoto T, Motohashi N, Ohyama K.
Cleft Palate Craniofac J. 2004;41(1):84-94.
Microdontia
Cataract Cephalometry Denture, Partial, Fixed Eye Abnormalities Females Homo sapiens Malocclusion Orthodontics, Corrective Panoramic Radiography Strabismus Syndrome Tooth Abnormalities Ventricular Septal Defects
9
(26.3%)		 30875852
 Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.
Martinho J, Ferreira H, Paulo S, Paula A, Marto CM, Carrilho E, Marques-Ferreira M.
Int J Environ Res Public Health. 2019;16(6):.
Narrow face
Adult Cataract Females Heart Septal Defects Homo sapiens Malocclusion Microphthalmos Orthognathic Surgical Procedures
9
(26.3%)		 21419309
 Endodontic management in oculo-facio-cardio-dental syndrome: a case report.
Pace R, Giuliani V, Pagavino G.
J Endod. 2011;37(4):558-61.
Narrow face
Brain Cataract Congenital Heart Defects Females Gutta-Percha Heart Septal Defects Homo sapiens Microphthalmos Patient Care Planning Periapical Periodontitis Retreatments Root Canal Filling Materials Root Canal Obturation Root Canal Preparation Root Canal Therapy Tooth, Nonvital Zinc Oxide-Eugenol Cement
        

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000456 Bifid nasal tip Very frequent (99-80%)
HP:0000482 Microcornea Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000684 Delayed eruption of teeth Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000176 Submucous cleft hard palate Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0000677 Oligodontia Frequent (79-30%)
HP:0000692 Misalignment of teeth Frequent (79-30%)
HP:0001169 Broad palm Frequent (79-30%)
HP:0001765 Hammertoe Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0004691 2-3 toe syndactyly Frequent (79-30%)
HP:0010327 Flexion contracture of the 2nd toe Frequent (79-30%)
HP:0010339 Flexion contracture of the 4th toe Frequent (79-30%)
HP:0011090 Fused teeth Frequent (79-30%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0001083 Ectopia lentis Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001634 Mitral valve prolapse Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002857 Genu valgum Occasional (29-5%)
HP:0002967 Cubitus valgus Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004969 Peripheral pulmonary artery stenosis Occasional (29-5%)
HP:0006315 Single median maxillary incisor Occasional (29-5%)
HP:0008872 Feeding difficulties in infancy Occasional (29-5%)
HP:0009778 Short thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0000518 Cataract 12
HP:0000275 Narrow face 2
HP:0000501 Glaucoma 2
HP:0000568 Microphthalmia 2
HP:0000456 Bifid nasal tip 1
HP:0000691 Microdontia 1
HP:0001572 Macrodontia 1
HP:0001629 Ventricular septal defect 1
HP:0001634 Mitral valve prolapse 1
HP:0006335 Persistence of primary teeth 1
HP:0012430 Cerebral white matter hypoplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
BCOR BCL6 corepressor 54880