<unk>  is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma. General appearance is obesity with thin/elongated arms and legs. micrognathia, short philtrum and high vaulted palate are common. Variable intellectual disability with occasional seizure and deafness also is characteristic of<unk> .
Cohen syndrome
Gleich's syndrome
Cohen-Gibson syndrome
Catel–Manzke syndrome
Kenny-Caffey syndrome
De Barsy syndrome
Shapiro syndrome
Galloway Mowat syndrome