Conditions / Genetic
Muenke Syndrome
info · Genetic
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
Signs and symptoms
- Hearing impairment
- Coronal craniosynostosis
- Global developmental delay
- Midface retrusion
- Recurrent otitis media
- Thimble-shaped middle phalanges of hand
- Brachycephaly
- Short middle phalanx of toe
- Radial deviation of finger
- Downslanted palpebral fissures
Also known as: FGFR3-related craniosynostosis