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Brachydactyly type A2

1 OMIM reference -
3 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Duane retraction syndrome

2 OMIM references -
1 associated gene
33 signs/symptoms

Brachydactyly type A2

Duane retraction syndrome

BMP2	(UniProt - OMIM)		CHN1	(UniProt - OMIM)
BMPR1B	(UniProt - OMIM)
GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.59)	CHN1

Citations in the biomedical literature:

Brachydactyly type A2		Duane retraction syndrome
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - DRS - DURS - Duane syndrome - Stilling-Turk-Duane syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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: 1 OMIM reference - 1 MeSH reference: C537089		External references: 2 OMIM references - 1 MeSH reference: D004370


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly

Brachydactyly type A2		Duane retraction syndrome
	Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia		Very frequent - Abnormal eye movements / oculomotor disorder - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Strabismus / squint Frequent - Anteverted nares / nostrils - Blepharophimosis / short palpebral fissures - Deepset eyes / enophthalmos Occasional - 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 neck - Talipes-varus / metatarsal varus - Thumb hypoplasia / aplasia / absence - Visual loss / blindness / amblyopia