Orofaciodigital syndrome type 5

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 23524810
 Thurston syndrome: an uncommon disorder presenting with common abnormalities.
John JR, Kumar P, Sharma RK.
J Craniofac Surg. 2013;24(2):e132-4.
Microcephaly Polydactyly
Homo sapiens Infant Male Orofaciodigital Syndromes
2
(31.0%)		 16731396
 Thurston syndrome: report of a new case.
Valiathan A, Sivakumar A, Marianayagam D, Valiathan M, Satyamoorthy K.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(6):757-60.
Polydactyly
Genes, Recessive Homo sapiens India Male Orofaciodigital Syndromes
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000161 Median cleft lip Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001830 Postaxial foot polydactyly Very frequent (99-80%)
HP:0000191 Accessory oral frenulum Frequent (79-30%)
HP:0000288 Abnormality of the philtrum Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0010297 Bifid tongue Frequent (79-30%)
HP:0000185 Cleft soft palate Occasional (29-5%)
HP:0000190 Abnormal oral frenulum morphology Occasional (29-5%)
HP:0000193 Bifid uvula Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000668 Hypodontia Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0002251 Aganglionic megacolon Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0004736 Crossed fused renal ectopia Occasional (29-5%)
HP:0005817 Postaxial polysyndactyly of foot Occasional (29-5%)
HP:0006297 Hypoplasia of dental enamel Occasional (29-5%)
HP:0010441 Ectopic accessory finger-like appendage Occasional (29-5%)
HP:0010800 Absent cupid's bow Occasional (29-5%)
HP:0011069 Increased number of teeth Occasional (29-5%)
HP:0012738 Agenesis of canine Occasional (29-5%)
HP:0100335 Non-midline cleft lip Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0010442 Polydactyly 1
HP:0100259 Postaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DDX59 DEAD-box helicase 59 83479