Spondyloepiphyseal dysplasia, Nishimura type

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.



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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: 41

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000260 Wide anterior fontanel Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000637 Long palpebral fissure Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0001238 Slender finger Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0002693 Abnormality of the skull base Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002942 Thoracic kyphosis Very frequent (99-80%)
HP:0003071 Flattened epiphysis Very frequent (99-80%)
HP:0003180 Flat acetabular roof Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003300 Ovoid vertebral bodies Very frequent (99-80%)
HP:0003366 Abnormality of the femoral neck or head region Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006454 Delayed patellar ossification Very frequent (99-80%)
HP:0008783 Wide proximal femoral metaphysis Very frequent (99-80%)
HP:0011001 Increased bone mineral density Very frequent (99-80%)
HP:0011326 Anterior plagiocephaly Very frequent (99-80%)
HP:0011849 Abnormal bone ossification Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0007894 Hypopigmentation of the fundus Frequent (79-30%)
HP:0011329 Abnormality of cranial sutures Frequent (79-30%)
HP:0100558 Hemiatrophy of upper limb Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0002879 Anisospondyly Occasional (29-5%)
HP:0009811 Abnormality of the elbow Occasional (29-5%)
HP:0010471 Oligosacchariduria 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