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Condition report · Immunological

Immuno-Osseous Dysplasias

Inherited conditions that combine short stature from abnormal bone growth with a weakened immune system. They include cartilage-hair hypoplasia, Schimke immuno-osseous dysplasia and Roifman syndrome.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Immuno-osseous dysplasia

Autosomal recessive

A group of conditions, including cartilage-hair hypoplasia (RMRP) and Schimke immuno-osseous dysplasia (SMARCAL1), that combine skeletal dysplasia with immune deficiency.

What a diagnosis changes

Knowing the diagnosis guides avoidance of live vaccines, infection prevention and monitoring of the kidneys, blood counts and cancer risk.

Genes analysed

Includes 5 related subtypes ↓
  • cartilage-hair hypoplasia
  • congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
  • metaphyseal dysplasia without hypotrichosis
  • Schimke immuno-osseous dysplasia
  • skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
MONDO:0015708Orphanet 169349MedGen 609410

Roifman syndrome

Autosomal recessive

Caused by changes in the RNU4ATAC gene, it combines skeletal dysplasia, reduced antibody production, retinal changes and developmental delay.

What a diagnosis changes

Recognition allows antibody replacement therapy where needed and appropriate developmental and eye follow-up.

Genes analysed

Also known as

RFMN; spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency; spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency; spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

MONDO:0014722OMIM 300258OMIM 616651Orphanet 353298MedGen 375801

Limitations

  • RMRP and RNU4ATAC are non-coding RNA genes, and some RMRP changes are insertions or duplications in its promoter; these can be missed by coding-focused analysis.

Other immunological conditions

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