Dysplastic cortical hyperostosis

Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 12401992
 Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case.
Suri M, Garrett C, Winter RM, Hall CM, Griffiths M.
Clin Dysmorphol. 2002;11(4):267-70.
Pulmonary hypoplasia Skeletal dysplasia
Adult Bone Diseases, Developmental Edema Females Homo sapiens Hyperostosis Male Pregnancy
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000079 Abnormality of the urinary system Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001789 Hydrops fetalis Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002269 Abnormality of neuronal migration Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002813 Abnormality of limb bone morphology Very frequent (99-80%)
HP:0003103 Abnormal cortical bone morphology Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0009826 Limb undergrowth Very frequent (99-80%)
HP:0011001 Increased bone mineral density Very frequent (99-80%)


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