Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

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Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Synonyms: Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability short stature facial dysmorphism (such as sparse hair high forehead deep-set eyes short and upslanting palpebral fissures short nose anteverted nares wide nasal base with broad nasal tip and broad columella long philtrum thin upper lip and low-set posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies abnormalities of the fingers hypothyroidism and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.

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 February 2024

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