Category: Syndromic developmental defect of the eye

Orphanet

• Ablepharon macrostomia syndrome
• Acrootoocular syndrome
• Aicardi syndrome
• Alagille syndrome
• Aniridia-absent patella syndrome
• Aniridia-intellectual disability syndrome
• Aniridia-ptosis-intellectual disability-familial obesity syndrome
• Ankyloblepharon filiforme adnatum-cleft palate syndrome
• Ankyloblepharon filiforme adnatum-imperforate anus syndrome
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
• Autosomal dominant popliteal pterygium syndrome
• Barber-Say syndrome
• Bardet-Biedl syndrome
• Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
• Blepharophimosis-radioulnar synostosis syndrome
• CHARGE syndrome
• CHIME syndrome
• Cat-eye syndrome
• Cataract-aberrant oral frenula-growth delay syndrome
• Cataract-hypertrichosis-intellectual disability syndrome
• Cataract-intellectual disability-anal atresia-urinary defects syndrome
• Cataract-intellectual disability-hypogonadism syndrome
• Classic homocystinuria
• Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
• Congenital cataracts, facial dysmorphism, and neuropathy
• Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
• Craniofacial microsomia
• Distal trisomy 14q
• Encephalopathy due to sulfite oxidase deficiency
• Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
• Focal dermal hypoplasia
• Fraser syndrome
• Frontofacionasal dysplasia
• GMS syndrome
• Gillespie syndrome
• Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
• Glaucoma-sleep apnea syndrome
• Hypergonadotropic hypogonadism-cataract syndrome
• Isolated Pierre Robin sequence
• Kaufman oculocerebrofacial syndrome
• King-Denborough syndrome
• Knobloch syndrome
• Laurence-Moon syndrome
• Lowe syndrome
• Lowry-MacLean syndrome
• Macular coloboma-cleft palate-hallux valgus syndrome
• Marinesco-Sjögren syndrome
• Marshall syndrome
• Meckel syndrome
• Megalocornea-intellectual disability syndrome
• Melnick-Needles syndrome
• Microcornea-corectopia-macular hypoplasia syndrome
• Microcornea-glaucoma-absent frontal sinuses syndrome
• Microphthalmia with brain and digit anomalies
• Microphthalmia with linear skin defects syndrome
• Microspherophakia-metaphyseal dysplasia syndrome
• Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
• Miller syndrome
• Monosomy 13q14
• Nager syndrome
• Nasopalpebral lipoma-coloboma syndrome
• Nathalie syndrome
• Noonan syndrome
• Noonan syndrome-like disorder with loose anagen hair
• Norrie disease
• Oculocerebrocutaneous syndrome
• Oculofaciocardiodental syndrome
• Ophthalmo-acromelic syndrome
• Ophthalmomandibulomelic dysplasia
• Peters plus syndrome
• Phakomatosis pigmentovascularis
• Renal coloboma syndrome
• Rubinstein-Taybi syndrome
• Septo-optic dysplasia
• Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• Smith-Lemli-Opitz syndrome
• Stickler syndrome
• Sturge-Weber syndrome
• Treacher Collins syndrome
• Turner syndrome
• Von Hippel-Lindau syndrome
• WAGR syndrome
• Waardenburg syndrome
• Weill-Marchesani syndrome
• Williams syndrome

• OrphaNet: ORPHA:108987