Camptodactyly syndrome, Guadalajara type 1

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.



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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: 47

HPO ID Term Frequency
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000689 Dental malocclusion Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0006292 Abnormality of dental eruption Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0009907 Attached earlobe Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000995 Melanocytic nevus Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001822 Hallux valgus Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0002967 Cubitus valgus Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0003691 Scapular winging Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0009891 Underdeveloped supraorbital ridges Frequent (79-30%)
HP:0000276 Long face Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000581 Blepharophimosis Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0009882 Short distal phalanx of finger Occasional (29-5%)


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