Conditions / Syndrome
STAD syndrome
info · Syndrome
A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolat
A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13.
Signs and symptoms
- Pyloric stenosis
- Snoring
- Short metacarpal
- Thin corpus callosum
- Overlapping toe
- Proportionate short stature
- Tracheomalacia
- Ascending tubular aorta aneurysm
- Ectopic anterior pituitary gland
- Cerebellar dysplasia
Also known as: skeletal dysplasia, tooth anomalies, and developmental delay syndrome