Hypertrichotic osteochondrodysplasia, Cantu type

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.



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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: 38

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000294 Low anterior hairline Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001640 Cardiomegaly Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0007665 Curly eyelashes Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000336 Prominent supraorbital ridges Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000885 Broad ribs Frequent (79-30%)
HP:0000926 Platyspondyly Frequent (79-30%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0001869 Deep plantar creases Frequent (79-30%)
HP:0002652 Skeletal dysplasia Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0003300 Ovoid vertebral bodies Frequent (79-30%)
HP:0004634 Cuboid-shaped vertebral bodies Frequent (79-30%)
HP:0009882 Short distal phalanx of finger Frequent (79-30%)
HP:0010059 Broad hallux phalanx Frequent (79-30%)
HP:0010109 Short hallux Frequent (79-30%)
HP:0001639 Hypertrophic cardiomyopathy Occasional (29-5%)
HP:0001654 Abnormal heart valve morphology Occasional (29-5%)
HP:0005616 Accelerated skeletal maturation Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
ABCC9 ATP binding cassette subfamily C member 9 10060
KCNJ8 potassium voltage-gated channel subfamily J member 8 3764