Intellectual disability-alacrima-achalasia syndrome

Definition

Orphanet

Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.

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Symptoms

Medical Term Other Names Description
Achalasia Achalasia of the esophagus A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Anisocoria Unequal pupil size, Unequal pupil dilatation, Asymmetry of the pupils, Asymmetric pupil sizes [more] Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Alacrima Absent lacrimal fluids, Absence of tears in the eyes, Absent tear secretion [more] Absence of tear secretion.
Dysautonomia Autonomic dysfunction Dysfunction of the autonomic nervous system.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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