Conditions / Syndrome
ABCD syndrome
info · Syndrome
A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
Signs and symptoms
- Albinism
- Large for gestational age
- Hearing impairment
- Abnormal auditory evoked potentials
- Aganglionic megacolon
- Total intestinal aganglionosis
- Polycythemia
- White eyelashes
- White eyebrow
- Fundus hypopigmentation
Also known as: ABCDS; albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness