Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Synonyms: Retinal dystrophy-juvenile cataract-short stature syndrome
A rare genetic syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood intellectual disability short stature mild facial dysmorphism (e.g. upslanted palpebral fissures hypoplastic alae nasi malar hypoplasia attached earlobes) excessive dental spacing and malocclusion juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy attenuated retinal arterioles generalized rod-cone dysfunction mottled macula peripapillary sparing of retinal pigment epithelium).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome?
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