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# Roifman syndrome

A rare recessive disorder of short stature, antibody deficiency, retinal disease and developmental delay, caused by a gene that makes RNA, not protein.

Updated Nov 13, 2026

On this page

- The basics What it is
- Who gets it
- Causes
- Pathophysiology

- Clinical Symptoms and signs
- Red flags
- Diagnosis
- Complications
- Prognosis

- Treatment Treatment

- Study Test yourself

## What it is

An autosomal recessive disorder caused by variants in RNU4ATAC, a gene for a small RNA of the minor spliceosome; it belongs to the RNU4ATAC spectrum with microcephalic osteodysplastic primordial dwarfism type I and Lowry–Wood syndrome.

See it in 3D

- [Femur](https://durgical.com/en/anatomy/femur/)
- [Tibia](https://durgical.com/en/anatomy/tibia/)

## Who gets it

Very rare; a few dozen people have been reported worldwide.

## Causes

- Biallelic variants in RNU4ATAC, which encodes the U4atac small nuclear RNA
- Autosomal recessive inheritance

## Pathophysiology

About 1 in 200 human introns is removed by a separate «minor» spliceosome. U4atac RNA is part of it; when it is faulty, minor introns are spliced poorly in many genes, which disturbs bone growth, B-cell function and retinal and brain development.

## Symptoms and signs

- Short stature with a spondyloepiphyseal dysplasia ([spine](https://durgical.com/en/anatomy/region/spine/) and growth-plate changes)
- Recurrent infections from antibody deficiency
- Retinal dystrophy
- Developmental delay or learning difficulty
- Distinctive facial features

## Red flags

- Frequent or severe bacterial infections

## Diagnosis

**Clinical**
Suspected when short stature with skeletal dysplasia combines with antibody deficiency and retinal disease.

**Tests**
Immunoglobulin levels and vaccine responses; sequencing of RNU4ATAC. Because RNU4ATAC is a non-coding gene, standard exome capture can miss it, so it must be included specifically or found by genome sequencing.

**Imaging**
Skeletal X-rays show the spondyloepiphyseal changes.

## Treatment

**Medical**
Immunoglobulin replacement to prevent infections.

**Follow-up**
Eye, growth, immune and developmental follow-up.

**Rehabilitation**
Educational and therapy support for developmental needs.

## Complications

- Recurrent infections
- Progressive visual loss from retinal dystrophy

## Prognosis

Depends mostly on control of infections and on the degree of developmental and visual involvement.

## Test yourself

Think of the answer, then tap the question to see it.

## What is unusual about the gene behind Roifman syndrome?

RNU4ATAC makes a small RNA of the minor spliceosome, not a protein.

## Why can a standard exome miss Roifman syndrome?

RNU4ATAC is non-coding, so exome capture designed for protein-coding exons may not include it.

## Which treatment prevents the main complication?

Immunoglobulin replacement, which prevents infections from the antibody deficiency.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: [RNU4atac-opathy](https://www.ncbi.nlm.nih.gov/books/NBK589232/) (GeneReviews (NCBI Bookshelf), 2023); [Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing](https://pubmed.ncbi.nlm.nih.gov/26522830/) (Nature Communications (Merico D et al.), PubMed 26522830, 2015).

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Representative model, for educational purposes only.

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Source: https://durgical.com/en/conditions/roifman-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/roifman-syndrome/