Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Absent eyebrows and eyelashes-intellectual disability syndrome Brak brwi i rzęs - niepełnosprawność intelektualna Zespół Hala, Berga i Rudolpha Hal-Berg-Rudolph syndrome ORPHA code 2985 OMIM code 200130 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl