Roifman syndrome
MONDO:0014722Mondo
Findings
No curated finding names Roifman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 6 of 6 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Narrow noseHPOHP:0000460
- 6 of 6 reported patients
- Postnatal growth retardationHPOHP:0008897
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Short digitHPOHP:0011927
- 6 of 6 reported patients
- Short metacarpalHPOHP:0010049
- 6 of 6 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Single transverse palmar creaseHPOHP:0000954
- 5 of 6 reported patients
Reported absent (1)
- Decreased T cell activationHPOHP:0005419
Show the remaining 38
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- Biconvex vertebral bodiesHPOHP:0004625
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Broad femoral headHPOHP:0008804
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:34016HGNC:34016
- Definitive · Illumina · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: Roifman syndrome
- Also called
- RFMNspondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndromespondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency