Neural tube defects [24 genes]

Neural tube defects, such as anencephaly and spina bifida, constitute a group of common congenital malformations. The clinical severity of neural tube defects varies greatly. Open lesions that affect the brain (anencephaly, craniorachischisis)
are invariably lethal before or at birth. Open spina bifida is generally compatible with postnatal survival, though the resulting neurological deterioration below the lesion level can cause lack of sensitivity, incapacity to walk,
and incontinence. Associated complications include hydrocephaly that usually requires cerebrospinal fluid derivation, vertebrae deformities, and genitourinary and gastrointestinal disorders. Closed spinal cord lesions are generally
less severe and can be asymptomatic, as is the case with spina bifida occulta, which is considered a normal variant.
However, the lumbosacral junction of the spinal cord may be present in spinal dysraphism and can cause motor and sensory deficiencies on the lower limbs, and a neuropathic bladder. Defects are associated with mutations in the
genes that are associated with the Wnt pathway. Variants identified in these genes have been associated with patients with craniorachischisis, anencephaly, or spina bifida. Mutations in these genes can interact with other risk factors in a
digenetic or polygenetic inheritance model, giving rise to the different types of neural tube defects.

• Vertebral malformations
• Muscle weakness
• Leg paralysis
• Urinary and fecal incontinence
• Skin disorders
• Hip, knee, and feet abnormalities
• Hydrocephaly
• Sleep apnea or sleep disorders

Prevalence: variable. 1/1,000 (Europe and Middle East)

• Genetic diagnosis
• Genetic counseling