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Lacrimal gland hypoplasia

MedGen UID:
350109
Concept ID:
C1863200
Finding
Synonym: Hypoplastic lacrimal gland
 
HPO: HP:0007732

Definition

Underdevelopment of the lacrimal gland. [from HPO]

Term Hierarchy

Conditions with this feature

Congenital absence of salivary gland
MedGen UID:
57641
Concept ID:
C0158667
Congenital Abnormality
Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome (270150), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by Entesarian et al., 2005).
Waardenburg syndrome type 4C
MedGen UID:
413310
Concept ID:
C2750452
Disease or Syndrome
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).
Alacrima, congenital, autosomal dominant
MedGen UID:
934803
Concept ID:
C4310836
Disease or Syndrome
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Professional guidelines

PubMed

Nair JR, Syed R, Chan IYM, Gorelik N, Chankowsky J, Del Carpio-O'Donovan R
Br J Radiol 2022 Jul 1;95(1135):20211333. Epub 2022 May 19 doi: 10.1259/bjr.20211333. PMID: 35522773Free PMC Article
Fox RI, Fox CM, Gottenberg JE, Dörner T
Rheumatology (Oxford) 2021 May 14;60(5):2066-2074. doi: 10.1093/rheumatology/kez142. PMID: 31034046
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article

Recent clinical studies

Diagnosis

Talsania SD, Robson CD, Mantagos IS
J Pediatr Ophthalmol Strabismus 2015 Oct 15;52 Online:e52-4. doi: 10.3928/01913913-20151007-11. PMID: 26473584

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