Pseudoprogeria syndrome

Orpha code: 2985OMIM code: 200130

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Absent eyebrows and eyelashes-intellectual disability syndrome
Brak brwi i rzęs - niepełnosprawność intelektualna
Zespół Hala, Berga i Rudolpha
Hal-Berg-Rudolph syndrome
Kod ORPHA
2985
Kod OMIM
200130
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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