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Pseudoprogeria syndrome

Disease definition

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.

ORPHA:2985

Classification level: Disorder
  • Synonym(s):
    • Absent eyebrows and eyelashes-intellectual disability syndrome
    • Hal-Berg-Rudolph syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 200130
  • UMLS: C0796125
  • MeSH: -
  • GARD: 415
  • MedDRA: -
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