Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome

    January 2002 in “ European journal of pediatrics ”
    Dana Hiyasat, Munir A. Dehyyat, Saleh Ajlouni, Ammar F. Mubaidin, Maha Till, Azmi Hadidi, Hatem El‐Shanti, Kamel Ajlouni
    TLDR "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
    The document described a newly recognized syndrome termed "D-CHRAMPS syndrome," characterized by a combination of cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature. The study detailed the clinical features and genetic aspects of this syndrome, contributing to the understanding of its complex presentation and aiding in the diagnosis and management of affected individuals. The research was conducted by a team of authors from various medical institutions in Jordan.
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