| Disease ID | Source | Name | Description |
| 604757 | OMIM | Craniosynostosis 2 (CRS2) | A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. The disease is caused by variants affecting the gene represented in this entry. |
| 168500 | OMIM | Parietal foramina 1 (PFM1) | Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. The disease is caused by variants affecting the gene represented in this entry. |
| 168550 | OMIM | Parietal foramina with cleidocranial dysplasia (PFMCCD) | Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. The disease is caused by variants affecting the gene represented in this entry. |