Spondyloepiphyseal dysplasia, Nishimura type

Also known as: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome

Definition

Orphanet

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

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Symptoms

Medical Term Other Names Description
Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Craniosynostosis Premature fontanel closure, Premature suture closure, Cranial suture synostosis, Craniosyostosis, Craniostenosis, Early fusion of cranial sutures, Deformity of the skull, Premature closure of cranial sutures [more] Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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