Stickler syndrome type 3

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0000162 Glossoptosis Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0002758 Osteoarthritis Frequent (79-30%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000768 Pectus carinatum Occasional (29-5%)
HP:0005916 Abnormal metacarpal morphology Occasional (29-5%)
HP:0100777 Exostoses Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL11A2 collagen type XI alpha 2 chain 1302