| Disease ID | Source | Name | Description |
| 609597 | OMIM | Parietal foramina 2 (PFM2) | 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. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. The disease is caused by variants affecting the gene represented in this entry. |
| 601224 | OMIM | Potocki-Shaffer syndrome (POSHS) | A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. The disease is caused by variants affecting the gene represented in this entry. |
| 613451 | OMIM | Frontonasal dysplasia 2 (FND2) | The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. The disease is caused by variants affecting the gene represented in this entry. |
| 615529 | OMIM | Craniosynostosis 5 (CRS5) | 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. Disease susceptibility is associated with variants affecting the gene represented in this entry. |