Combined immunodeficiency with facio-oculo-skeletal anomalies

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Synonyms: Roifman-Chitayat syndrome

A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial viral and fungal infections in association with neurological manifestations (hypotonia cerebellar ataxia myoclonic seizures) developmental delay optic atrophy facial dysmorphism (high forehead hypoplastic supraorbital ridges palpebral edema hypertelorism flat nasal bridge broad nasal root and tip anteverted nares thin lower lip overlapped by upper lip square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses osteopenia).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Combined immunodeficiency with facio-oculo-skeletal anomalies?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

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