Radioulnar synostosis-developmental delay-hypotonia syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).



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

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003011 Abnormality of the musculature Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0000003 Multicystic kidney dysplasia Frequent (79-30%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000670 Carious teeth 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