Conditions / Syndrome
Rubinstein-Taybi syndrome
info · Syndrome · ICD-10: Q87.2
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Signs and symptoms
- Strabismus
- Gastroesophageal reflux
- Spina bifida
- Highly arched eyebrow
- Incoordination
- Downslanted palpebral fissures
- High, narrow palate
- Long eyelashes
- Low-set ears
- Hydronephrosis
Also known as: Broad Thumb-Hallux syndrome; Rubinstein syndrome; proximal chromosome 16p13.3 deletion syndrome