Signs and symptoms of<unk>  usually commence during infancy and worsen with age, and may include: gastrointestinal dysmotility (including erratic gastric emptying, gastroesophageal reflux, abnormal esophageal peristalsis, oropharyngeal incoordination), dysphagia (as poor suckling in infancy) and frequent choking/gagging, recurrent vomiting, poor weight gain/growth, delayed development (especially walking) and puberty (especially in girls), recurrent aspiration pneumonia (due to inhalation of food or vomitus) with possible secondary chronic lung disease, absence of overflow tears during crying, corneal ulcers, red skin blotches and excessive sweating (often during eating or excitement), breath-holding spells, slurred speech/nasal voice, tongue ulcers (from accidental self-injuries), hyporeflexia (variable absence of deep tendon reflexes), hypotonia, enuresis, arrhythmias, hypertension (including episodic hypertension in response to emotional stress or visceral pain), hypotension (including orthostatic hypertension with compensatory tachycardia (invariably present)), impaired (but not absent) temperature and pain perception (leading to frequent accidental injury), impaired proprioception, a smooth glossy tongue, scoliosis (with possibly secondary restrictive lung disease), abnormal gait, short stature, chronic renal failure (common), visual impairment, variable cognitive ability, characteristic facial features that develop with time, impaired vibration perception, lack of fungiform papilla of the tongue, and impaired taste perception (especially for sweetness). * Autonomic crises - In children with<unk> , recurrent episodes of vomiting may occur. Such episodes may be triggered by physical (e.g. infection) or emotional stress, may occur every 15–20 minutes for over 24 hours, and may be accompanied with: significant hypertension, drenching sweat, breathing issues, fever, tachycardia, aspiration pneumonia, skin blotches, drooling, and negative personality change. * Pain insensitivity - Insensitivity or indifference to painful stimuli may lead to frequent/progressive self-mutilation, burns, and ulcers. There may be self-mutilation of the tongue (especially in toddlers during teething), lips, and cheeks, or loss of teeth. Compulsive oral biting may result in ulcers, or tumour-like masses (Riga-Fede disease). Progression<unk>  presents with progressive age-specific symptoms. Though usually not diagnosed until several years of age, generalised signs of<unk>  are present in during the newborn period >80% of those affected.Dysmorpnic facial features are not directly inherent to the disorder, however, facial asymmetry and a straightened mouth eventually develop due to abnormal tone and molding of facial bones. Perinatal A very high incidence of breech presentation has been noted among infants with<unk> . A lower birth weight as compared to siblings, premature birth, and intrauterine growth restriction have also been noted. Neonatal During the neonatal period, there may be hypotonia, respiratory insufficiency, poor feeding with difficulty swallowing and aspiration, developmental delay, short stature, scoliosis, and corneal disease. Infancy Issues related to the disorder first appear during infancy. Early manifestations include hypotonia, feeding difficulty (impaired swallowing and suckling), poor growth, absence of tears, frequent lung infections, and poor body temperature control (infants may display cold hands and feet). Developmental milestones (e.g. walking, speech) may or may not be delayed. In infants with<unk> , a lack of overflow tears during emotional crying may be noted after the age of 7 months (until this age, overflow emotional tearing may also not occur in unaffected infants; overflow tearing is absent in neonates and begins to appear only after 2–3 months of age). Affected infants' hands may alternatively appear cool and mottled (from vasoconstriction), or red and swollen (from vasodilation). Red skin blotching is often precipitated by emotional excitement. In older infants and young children, breath-holding spells may occur, possibly leading to cyanosis or fainting. Breath-holding behaviour usually ceases by age 6. Children Kyphoscoliosis in a 10-year-old girl with HSANIIIBreath-holding behaviour usually resolves by age 6. In school-age children, there may be bed wetting, vomiting episodes, impaired pain and temperature perception, impaired blood pressure control (including orthostatic hypotension, an hypertension during periods of psychological excitement or vomiting), learning disabilities (e.g. short attention span; learning disabilities are present in about a third of those with<unk> , and may require special education), scoliosis, poor bone quality and bone fractures, and kidney and heart issues. Adolescence and adulthood Issues that tend to commence during adolescence or early adulthood include lung damage due to multiple respiratory infections, impaired kidney function, and impaired vision (due to atrophy of the optic nerve). By adulthood, there are often mounting difficulties with balance and unaided walking.
Familial dysautonomia
Bartter syndrome
Arts syndrome
Blind loop syndrome
Andersen–Tawil syndrome
Crandall syndrome
Barakat syndrome
Eagle syndrome