Camptodactyly-joint contractures-facial skeletal defects syndrome

Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).



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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000189 Narrow palate Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002648 Abnormality of calvarial morphology Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0003422 Vertebral segmentation defect Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004422 Biparietal narrowing Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0100555 Asymmetric growth Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation 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