Description

Alacrima is the absence of tears. While acquired hypoproduction is relatively common, hereditary causes of alacrima are rare.


Alacrima accompanied by achalasia:

(1) achalasia, Addison's, alacrima syndrome (AAAS, Allgrove Syndrome)

(2) alacrima, achalasia, mental retartdation (AAMR)

(3) mental retardation, X-linked (MRXS17)

 

With autonomic neuropathy:

(1) hereditary sensory and autonomic neuropathy (HSAN1B)

(2) HSAN3

(3) HSAN6

 

Aplasia of the lacrimal glands:

(1) aplasia of the lacrimal and salivary glands (ALSG)

(2) lacrimal-auricular-dental-digital (LADD)

 

Multi-system disorders

(1) NGLY1 (N-glycanase 1) deficiency

(2) peripheral demyelinating neuropathy, central demyelination, Waardenburg syndrome, Hirschsprung's disease (PCWH)

 

Facial developmental disorder with neurologic impairment

(1) Schinzel-Giedion midface retraction syndrome

 

Alacrima with lacrimal glands and absence of other findings:

(1) isolated familial alacrima, autosomal recessive

(2) isolated familial alacrima, autosomal dominant

 

Other:

(1) Riley-Day syndrome (familial dysautonomia)

(2) anhidrotic ectodermal dysplasia


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