craniosynostosis-fibular aplasia syndrome
Findings
No curated finding names craniosynostosis-fibular aplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.
Definition from the Mondo Disease Ontology (MONDO:0009038), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- CraniosynostosisHPOHP:0001363
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Fibular aplasiaHPOHP:0002990
- 2 of 2 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: craniosynostosis-fibular aplasia syndrome
- Also called
- Lowry syndrome