Conditions / Nervous system
hereditary sensory and autonomic neuropathy type 6
info · Nervous system
A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gen
A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12.
Signs and symptoms
- Flexion contracture
- Hypotonia
- Neonatal hypotonia
- Generalized hypotonia
- Erythema
- Corneal scarring
- Breech presentation
- Bradycardia
- Open mouth
- Blotching pigmentation of the skin
Also known as: HSAN6; hereditary sensory and autonomic neuropathy type VI