Familial dysautonomia

Is a disorder of the autonomic nervous system which affects the development and
survival of sensory, sympathetic and some parasympathetic neurons in the
autonomic and sensory nervous system resulting in variable symptoms, including
insensitivity to pain, inability to produce tears, poor growth, and labile blood
pressure.

Signs and symptoms

The most distinctive clinical feature is the absence of overflow tears with emotional crying after
age 7 months.There is also a high prevalence of breech presentation. Other symptoms include
weak or absent suck and poor tone, poor suck and misdirected swallowing, and red blotching
of skin.

Symptoms
Delayed speech and walking
Unsteady gait
Spinal curvature
Corneal abrasion
Less perception in pain or temperature with nervous system.
Poor growth
Cause
Familial dysautonomia is the result of mutations in IKBKAP gene on chromosome
9, which encodes for the IKAP protein