Conditions / Syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
info · Syndrome
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
Signs and symptoms
- Long philtrum
- Seizure
- Congenital hypoparathyroidism
- Thin upper lip vermilion
- Axial hypotonia
- Hypocalcemic seizures
- Deeply set eye
- Decreased circulating parathyroid hormone level
- Depressed nasal bridge
- Hyperphosphatemia
Also known as: HRD syndrome; Sanjad-Sakati syndrome; hypoparathyroidism with short stature, mental retardation and seizures