| Muenke Syndrome, also known as FGFR3-related | | | | A single mutation in the FGFR3 gene causes this |
| craniosynostosis. Muenke syndrome is an inherited | | | | syndrome. The protein made by the FGFR3 gene |
| condition characterized by the early closure of | | | | is a receptor that plays a role in the development |
| certain bones of the skull (coronal synostosis), | | | | and maintenance of bone and brain tissue. |
| which affects the shape of the head and face. | | | | Mutations in this gene result in an abnormal |
| Many people with this disorder have a premature | | | | receptor that binds more readily to molecules |
| fusion of skull bones along the coronal suture, the | | | | outside the cell. |
| growth line which goes over the head from ear | | | | This overactive receptor interferes with normal |
| to ear. Other parts of the skull may be | | | | bone growth, allowing the bones of the head to |
| malformed as well. These changes can result in an | | | | mingle before they should. Most people with this |
| abnormally shaped head, wide-set eyes, and | | | | condition have normal intellect, but learning |
| flattened cheekbones. Muenke syndrome occurs in | | | | disabilities are common. These signs and |
| about 1 in 30,000 newborns. | | | | symptoms vary between people, and some |
| Most people with this condition have normal | | | | findings overlap with those seen in other |
| intellectual, but developmental impediment and | | | | craniosynostosis syndromes. Children with Muenke |
| learning disabilities are possible. Some have an | | | | syndrome and craniosynostosis are referred to a |
| enlarged head (macrocephaly). The signs and | | | | craniofacial clinic with experience in pediatrics. |
| symptoms of Muenke syndrome vary among | | | | Adults with Muenke syndrome should be referred |
| affected people, and some findings overlap with | | | | to a medical geneticist and genetic counselor for |
| those seen in other craniosynostosis syndromes. | | | | assessment and genetic counseling. |