Conditions / Syndrome
CODAS syndrome
info · Syndrome
A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
Signs and symptoms
- Delayed epiphyseal ossification
- Hypoplasia of the odontoid process
- Caudate atrophy
- Generalized hypotonia
- Metaphyseal dysplasia
- Cataract
- Choreoathetosis
- Pes valgus
- Patent foramen ovale
- Anteverted nares
Also known as: cerebral, ocular, dental, auricular, and skeletal syndrome; cerebro-oculo-dento-auriculo-skeletal syndrome