Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy. Signs and symptoms
Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammertoe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.Loss of touch sensation in the feet, ankles, and legs as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with on and off painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder.
Cebocephaly (from Greek kebos, "monkey" + kephale, "head") is a developmental anomaly that is part of a group of defects called holoprosencephaly. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no nasal septum). It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries. Signs and symptoms
Cebocephaly causes:

two separate eyes set close together
a small, flat nose with a single nostril
ear abnormalities
mouth abnormalities (such as microstomia)The presence of a nasal septum precludes a diagnosis of cebocephaly. Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit. Cause
Cebocephaly can be caused by many factors, particularly genetic variations. These include 18p-, 14q deletion, 13q deletion, and some vertically transmitted infections. It is part of a group of defects called holoprosencephaly. Diagnosis
Before birth, cebocephaly may sometimes be diagnosed using ultrasound. After birth, cebocephaly is diagnosed based on the characteristic symptoms. A CT scan may be used to confirm the diagnosis. Prognosis
Most infants born with cebocephaly die soon after birth. Epidemiology
Cebocephaly is very uncommon. Some estimates of its prevalence include 1 in 40,000 neonatal deliveries. History
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head). See also
Cephalic disorder


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