craniosynostosis and dental anomalies
MONDO:0013615Mondo
Findings
No curated finding names craniosynostosis and dental anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
41 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.
- 2-3 toe syndactylyHPOHP:0004691
- 3 of 3 reported patients
- Broad halluxHPOHP:0010055
- 4 of 4 reported patients
- Coronal craniosynostosisHPOHP:0004440
- 8 of 8 reported patients
- Craniofacial dysostosisHPOHP:0004439
- 2 of 2 reported patients
- Delayed eruption of teethHPOHP:0000684
- 4 of 4 reported patients
- Dental malocclusionHPOHP:0000689
- 2 of 2 reported patients
- Hallux valgusHPOHP:0001822
- 4 of 4 reported patients
- Metopic synostosisHPOHP:0011330
- 8 of 8 reported patients
- PapilledemaHPOHP:0001085
- 7 of 7 reported patients
- Sagittal craniosynostosisHPOHP:0004442
- 6 of 6 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 9 of 10 reported patients
- BrachycephalyHPOHP:0000248
- 5 of 6 reported patients
Show the remaining 29
- Lambdoidal craniosynostosisHPOHP:0004443
- 4 of 6 reported patients
- Supernumerary toothHPOHP:0011069
- 4 of 6 reported patients
- Absent malleusHPOHP:0011455
- 1 of 2 reported patients
- Chiari malformationHPOHP:0002308
- 1 of 2 reported patients
- Chronic otitis mediaHPOHP:0000389
- 1 of 2 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 1 of 2 reported patients
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.
- IL11RAHGNC:5967
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: craniosynostosis and dental anomalies
- Also called
- Kreiborg-Pakistani syndrome