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Roifman syndrome

MONDO:0014722

Also known as: RFMN, Roifman syndrome, spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency, spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome, spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Roifman syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Immune system disorder (12993) ↑ Primordial dwarfism and slender bone disorder (9) ↑ Spondyloepiphyseal dysplasia (8) ↑ RNU4ATAC spectrum disorder (1)

Including sub-types (1) Tagged with Roifman syndrome (1)

Trials to join now! 1

New registry aims to unlock secrets of rare dwarfism disorders

Knowledge-focused Recruiting now

This study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…

Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC