Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

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Synonyms: Liberfarb syndrome

A rare primary bone dysplasia characterized by microcephaly developmental delay and intellectual disability sensorineural hearing loss retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses spondyloepimetaphyseal dysplasia short stature severe spinal deformities and severe joint laxity resulting in multiple joint dislocations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome?

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