Baller-Gerold syndrome
Findings
No curated finding names Baller-Gerold syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
Definition from the Mondo Disease Ontology (MONDO:0009039), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
76 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.
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- 2 of 6 reported patients
- Very frequent (80% to 99% of cases)
- BrachyturricephalyHPOHP:0000244
- 1 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Finger aplasiaHPOHP:0009380
- Very frequent (80% to 99% of cases)
Show the remaining 64
- Abnormal carpal morphologyHPOHP:0001191
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Anteriorly placed anusHPOHP:0001545
- 3 of 6 reported patients
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the patellaHPOHP:0006498
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
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.
- RECQL4HGNC:9949
- Definitive · G2P · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of