Synonym(s): - DRS - DURS - Duane syndrome - Stilling-Turk-Duane syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the eye and adnexa - See
Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 2 OMIM references - See 1 MeSH reference: D004370
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CHN1	P15882	118423

- Abnormal eye movements / oculomotor disorder
- Autosomal dominant inheritance
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Strabismus / squint

- Anteverted nares / nostrils
- Blepharophimosis / short palpebral fissures
- Deepset eyes / enophthalmos

- Abnormal vertebral size / shape
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad nasal root
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Ectopic / horseshoe / fused kidneys
- External ear anomalies
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ptosis
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short neck
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence
- Visual loss / blindness / amblyopia