Mietens syndrome

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.



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
(50.2%)		 6999882
 Ultrastructure and successful keratoplasty of sclerocornea in Mietens' syndrome.
Waring GO 3rd, Rodrigues MM.
Am J Ophthalmol. 1980;90(4):469-75.
Sclerocornea Absent radius
Child, Preschool Cornea Corneal Opacity Electron Microscopy Fibula Homo sapiens Keratoplasty Male Nose Sclera Transplantation, Homologous
2
(33.8%)		 889539
 Meitens' syndrome.
Nagano A, Kurokawa T, Tachibana S, Tsuyama N.
Arch Orthop Unfallchir. 1977;89(1):81-6.
Strabismus Flexion contracture Elbow dislocation
Contracture Corneal Opacity Growth Disorders Homo sapiens Infant Intellectual Disability Male Nose Deformities, Acquired Strabismus Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 33

HPO ID Term Frequency
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002300 Mutism Very frequent (99-80%)
HP:0002357 Dysphasia Very frequent (99-80%)
HP:0002381 Aphasia Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0007957 Corneal opacity Very frequent (99-80%)
HP:0010529 Echolalia Very frequent (99-80%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0003070 Elbow ankylosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000482 Microcornea Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000647 Sclerocornea Occasional (29-5%)
HP:0001385 Hip dysplasia Occasional (29-5%)
HP:0001840 Metatarsus adductus Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002673 Coxa valga Occasional (29-5%)
HP:0002812 Coxa vara Occasional (29-5%)
HP:0002827 Hip dislocation Occasional (29-5%)
HP:0002991 Abnormality of fibula morphology Occasional (29-5%)
HP:0005743 Avascular necrosis of the capital femoral epiphysis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000486 Strabismus 1
HP:0000639 Nystagmus 1
HP:0000647 Sclerocornea 1
HP:0001371 Flexion contracture 1
HP:0002987 Elbow flexion contracture 1
HP:0003042 Elbow dislocation 1
HP:0003974 Absent radius 1
HP:0007957 Corneal opacity 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID