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.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

      community Alopecia Areata Question

      in Treatment  2 upvotes 3 years ago
      A user with alopecia totalis, borderline universalis, seeks advice on getting into a Xeljanz trial or appealing insurance for coverage. They experienced significant hair regrowth but are now seeing hair loss again and want to try Xeljanz.

      community mbp alopecia areata or vitamin deficiency

      in Chat 4 months ago
      A 19-year-old male has been using topical finasteride and minoxidil for 8 months with no progress and is considering seeking a second opinion due to potential misdiagnosis. The discussion revolves around whether the hair loss is due to male pattern baldness, alopecia areata, or a vitamin deficiency.

      community Androgenic alopecia exclusively on the vertex of the scalp

      in Chat  6 upvotes 6 months ago
      A user experienced androgenic alopecia starting at the vertex without frontal hairline recession and is seeking information on this pattern. Another user noted that vertex or diffuse hair loss is common among men.

      community Fibrosing alopecia in a pattern distribution

      in Research/Science  14 upvotes 8 months ago
      A user has been experiencing hair loss for 4 years, with treatments like minoxidil, finasteride, and various supplements proving ineffective. They were diagnosed with fibrosing alopecia in a pattern distribution, a condition that may require a combination of anti-inflammatory and hair growth treatments.

      community Androgenetic alopecia is a skin disease: DHT-mediated skin disorders

      in Research/Science  65 upvotes 1 year ago
      Dihydrotestosterone (DHT) impacts various skin conditions, including Androgenetic alopecia and seborrheic dermatitis, by causing overactivity in sebaceous glands. Topical medications Tacrolimus and Clobetasol can reduce these inflammatory conditions, and treatments like RU58841, Minoxidil, and Finasteride may also be beneficial.

    Similar Research

    5 / 1000+ results