Thoracic dysplasia-hydrocephalus syndrome

Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.



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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0001334 Communicating hydrocephalus Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009826 Limb undergrowth Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000944 Abnormality of the metaphysis Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002878 Respiratory failure 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