Orphanet: Retinitis pigmentosa juvenile cataract short stature intellectual disability syndrome
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Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Disease definition

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).

ORPHA:436245

Classification level: Disorder
  • Synonym(s):
    • Retinal dystrophy-juvenile cataract-short stature syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 616108
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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