Craniolenticulosutural dysplasia

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.



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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: 34

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000327 Hypoplasia of the maxilla Very frequent (99-80%)
HP:0000336 Prominent supraorbital ridges Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0000684 Delayed eruption of teeth Very frequent (99-80%)
HP:0000685 Hypoplasia of teeth Very frequent (99-80%)
HP:0000691 Microdontia Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002208 Coarse hair Very frequent (99-80%)
HP:0002299 Brittle hair Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004331 Decreased skull ossification Very frequent (99-80%)
HP:0006480 Premature loss of teeth Very frequent (99-80%)
HP:0008031 Posterior Y-sutural cataract Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0008444 Posterior wedging of vertebral bodies Very frequent (99-80%)
HP:0008808 High iliac wings Very frequent (99-80%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000953 Hyperpigmentation of the skin Frequent (79-30%)
HP:0001000 Abnormality of skin pigmentation Frequent (79-30%)
HP:0001763 Pes planus Frequent (79-30%)
HP:0005306 Capillary hemangioma Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0005692 Joint hyperflexibility 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
SEC23A Sec23 homolog A, coat complex II component 10484