Orofaciodigital syndrome type 10

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000185 Cleft soft palate Frequent (79-30%)
HP:0000191 Accessory oral frenulum Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001440 Metatarsal synostosis Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0002990 Fibular aplasia Frequent (79-30%)
HP:0004987 Mesomelic leg shortening Frequent (79-30%)
HP:0005011 Mesomelic arm shortening Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0005736 Short tibia Frequent (79-30%)
HP:0005873 Polysyndactyly of hallux Frequent (79-30%)
HP:0006114 Multiple palmar creases Frequent (79-30%)
HP:0006434 Hypoplasia of proximal radius Frequent (79-30%)
HP:0008368 Tarsal synostosis Frequent (79-30%)
HP:0008386 Aplasia/Hypoplasia of the nails Frequent (79-30%)
HP:0009280 Short 4th finger Frequent (79-30%)
HP:0009486 Radial deviation of the hand Frequent (79-30%)
HP:0009942 Duplication of thumb phalanx Frequent (79-30%)
HP:0012165 Oligodactyly Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0012428 Prominent calcaneus Frequent (79-30%)
HP:0100258 Preaxial polydactyly Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID