Arnold Stickler Bourne syndrome
Synonyms
1
Overview
A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
Symptoms
- Abnormal voice
- Abnormal cry
- Abnormal gait
- Nystagmus
- Pharyngeal abnormality
- Amyotrophy
- Corneal crystals
- Muscle agenesis
- Conductive deafness
- Expressionless face
- Abnormal muscle biopsy
- Myopathy
- Protein in the urine
- Renal glomerular defect
- Speech defect
- Ureteric anomalies
- Vascular hypertension
- Retinal pigment epithelial mottling
- Weakness of oropharyngeal muscles
- Wasting of oropharyngeal muscles
- Weakness of hand muscles
- Wasting of hand muscles
Causes
Conditions listing Arnold Stickler Bourne syndrome as a symptom may also be potential underlying causes of Arnold Stickler Bourne syndrome.
Resources
- NIH