<unk>  is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism, congenital nonmyopathic ptosis, iris or retinal coloboma, deafness, epilepsy, and pachygyria. Individuals affected by<unk>  may also present with a broad nose that has a large tip and prominent root, a ridged metopic suture, arched eyebrows, a shoulder girdle muscle bulk and progressive joint stiffness, a cleft lip or palate, hallux duplex (a toe deformation), microcephaly, heart and renal tract abnormalities; all which contribute to the intellectual and developmental disabilities exhibited by affected individuals. Consequentially, it has been observed that those with this syndrome also have a short stature and the presence of an extra (duplicated) thumb. The presentation and severity of the previously mentioned symptoms vary depending on the severity of the syndrome. Some individuals may be affected by all the discussed symptoms, and some may have only one or two. For example, the pachygyria associated with<unk>  is rarely lissencephaly, or neuronal heterotopia. Additionally, the associated microcephaly is not a required, it can develop over time as the affected individual continues to live.
Fryns-Aftimos syndrome
Yunis–Varon syndrome
Helsmoortel-Van der Aa syndrome
CAMFAK syndrome
Townes–Brocks syndrome
Teunissen–Cremers syndrome
Pretzel syndrome
Cortes Lacassie syndrome