pseudoprogeria syndrome

Rare Disease

MONDO:0008694

Also Known As

Hal-Berg-Rudolph syndromeabsent eyebrows and eyelashes-intellectual disability syndromeeyebrows and eyelashes absence-intellectual disability syndromepseudoprogeria syndromeabsent eyebrows and eyelashes with intellectual disabilityabsent eyebrows and eyelashes with mental retardationintellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nosemental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose

Definition

Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.