X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002866 Hypoplastic iliac wing Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005871 Metaphyseal chondrodysplasia Very frequent (99-80%)
HP:0006028 Metaphyseal cupping of metacarpals Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000883 Thin ribs Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0008364 Abnormality of the calcaneus Frequent (79-30%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000962 Hyperkeratosis Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia 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
HDAC6 histone deacetylase 6 10013