Combined immunodeficiency with facio-oculo-skeletal anomalies
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Combined immunodeficiency with facio-oculo-skeletal anomalies?
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