Conditions / Syndrome
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
info · Syndrome
A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
Signs and symptoms
- Nephrocalcinosis
- Elliptocytosis
- Short stature
- Narrow mouth
- Flat face
- Anemia
- Thin upper lip vermilion
- Patent ductus arteriosus
- Submucous cleft hard palate
- Polyhydramnios
Also known as: MFHIEN