Pseudoprogeria syndrome

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Synonyms: Absent eyebrows and eyelashes-intellectual disability syndrome | Hal-Berg-Rudolph syndrome

A rare syndromic intellectual deficiency characterized by psychomotor delay severe progressive spastic quadriplegia microcephaly and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes glaucoma and small beaked nose. Structural central nervous system abnormalities (cervical spinal cyst occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.

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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