| Disease ID | Source | Name | Description |
| 227260 | OMIM | Focal facial dermal dysplasia 3, Setleis type (FFDD3) | A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. The disease is caused by variants affecting the gene represented in this entry. |
| 209885 | OMIM | Barber-Say syndrome (BBRSAY) | A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. The disease is caused by variants affecting the gene represented in this entry. |
| 200110 | OMIM | Ablepharon-macrostomia syndrome (AMS) | A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. The disease is caused by variants affecting the gene represented in this entry. |