Arthrogryposis ophthalmoplegia retinopathy
Synonyms
5
Overview
A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
Symptoms
- Optic disc anomaly
- Optic disc atrophy
- Deep set eyes
- Grooved chin
- Irregular finger length
- Irregular finger shape
- Dimpled chin
- Weak eye muscles
- Sunken chest
- Ptosis
- Restricted joint mobility
- Abnormal E.R.G.
- Absence of palmar creases
- Claw hand
- Camptodactyly of all fingers
- Triangular face
- Mild vision loss
- Inguinal hernia
- Long ear
- Large ear
- Overlapping fingers
- Talipes varus
- Talipes valgus
- Chin dimple
- Deeply set eye
- Limitation of joint mobility
- Ophthalmoparesis
- Pectus excavatum
- Ptosis
Resources
- NIH