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Congenital absence of salivary gland(ALSG)

MedGen UID:
57641
Concept ID:
C0158667
Congenital Abnormality
Synonyms: ALSG; Aplasia of lacrimal and salivary glands; Salivary glands, absence of
SNOMED CT: Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (715656004); Aplasia of lacrimal and salivary gland (715656004); Congenital absence of salivary gland (22589009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FGF10 (5p12)
 
Monarch Initiative: MONDO:0008397
OMIM®: 180920
Orphanet: ORPHA86815

Definition

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). [from OMIM]

Clinical features

From HPO
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Xerostomia
MedGen UID:
22735
Concept ID:
C0043352
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
Lacrimal gland hypoplasia
MedGen UID:
350109
Concept ID:
C1863200
Finding
Underdevelopment of the lacrimal gland.
Absent lacrimal punctum
MedGen UID:
356683
Concept ID:
C1867060
Disease or Syndrome
No identifiable superior and/or inferior lacrimal punctum.
Lacrimal gland aplasia
MedGen UID:
870377
Concept ID:
C4024822
Finding
A congenital defect of development characterized by absence of the lacrimal gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of salivary gland
Follow this link to review classifications for Congenital absence of salivary gland in Orphanet.

Professional guidelines

PubMed

Meier JD, Grimmer JF
Am Fam Physician 2014 Mar 1;89(5):353-8. PMID: 24695506

Recent clinical studies

Etiology

Nibandhe AS, Bagga B
J AAPOS 2024 Jun;28(3):103903. Epub 2024 Mar 25 doi: 10.1016/j.jaapos.2024.103903. PMID: 38537898
Odeh M, Bronshtein M, Bornstein J
Isr Med Assoc J 2017 Jan;19(1):12-14. PMID: 28457107
Meier JD, Grimmer JF
Am Fam Physician 2014 Mar 1;89(5):353-8. PMID: 24695506
Odeh M, Hershkovits M, Bornstein J, Loberant N, Blumenthal M, Ophir E
Arch Dis Child 2013 Oct;98(10):781-3. Epub 2013 Aug 1 doi: 10.1136/archdischild-2013-303841. PMID: 23908188
Taji SS, Savage N, Holcombe T, Khan F, Seow WK
Pediatr Dent 2011 Mar-Apr;33(2):113-8. PMID: 21703060

Diagnosis

Zhu H, Yu GY
J Stomatol Oral Maxillofac Surg 2022 Nov;123(6):e988-e990. Epub 2022 Jul 21 doi: 10.1016/j.jormas.2022.07.014. PMID: 35870793
Kuralt H, Fidler A, Blatnik A, Novaković S, Plavc G
Oral Radiol 2022 Jul;38(3):423-429. Epub 2022 Jan 25 doi: 10.1007/s11282-022-00589-z. PMID: 35076829
Odeh M, Bronshtein M, Bornstein J
Isr Med Assoc J 2017 Jan;19(1):12-14. PMID: 28457107
Meier JD, Grimmer JF
Am Fam Physician 2014 Mar 1;89(5):353-8. PMID: 24695506
Cohen EG, Yoder M, Thomas RM, Salerno D, Isaacson G
Pediatrics 2003 Jul;112(1 Pt 1):e66-9. doi: 10.1542/peds.112.1.e66. PMID: 12837908

Therapy

Sagili SR, Rene C, Russo A
Ophthalmic Plast Reconstr Surg 2012 Mar-Apr;28(2):e50-1. doi: 10.1097/IOP.0b013e318220863f. PMID: 21659912
Taji SS, Savage N, Holcombe T, Khan F, Seow WK
Pediatr Dent 2011 Mar-Apr;33(2):113-8. PMID: 21703060
Hodgson TA, Shah R, Porter SR
Pediatr Dent 2001 Mar-Apr;23(2):131-4. PMID: 11340723

Prognosis

Nibandhe AS, Bagga B
J AAPOS 2024 Jun;28(3):103903. Epub 2024 Mar 25 doi: 10.1016/j.jaapos.2024.103903. PMID: 38537898
Feng ZX, Liu W, Li Z, Cui Y, Li L, Zhang C
Ophthalmology 2024 May;131(5):589-594. Epub 2023 Dec 9 doi: 10.1016/j.ophtha.2023.12.003. PMID: 38081329
Kuralt H, Fidler A, Blatnik A, Novaković S, Plavc G
Oral Radiol 2022 Jul;38(3):423-429. Epub 2022 Jan 25 doi: 10.1007/s11282-022-00589-z. PMID: 35076829
Di Micco R, Prüfer F, Bruder E, Schifferli A, Gürtler N
Eur J Pediatr 2019 Aug;178(8):1301-1304. Epub 2019 Jul 1 doi: 10.1007/s00431-019-03411-x. PMID: 31257547
Yan Z, Ding N, Liu X, Hua H
Acta Otolaryngol 2012 Jun;132(6):671-5. Epub 2012 Feb 16 doi: 10.3109/00016489.2011.648273. PMID: 22339588

Clinical prediction guides

Giotakis AI, Masaoutis C, Delides A, Giotakis EI
J Med Case Rep 2024 May 3;18(1):231. doi: 10.1186/s13256-024-04553-9. PMID: 38698413Free PMC Article
Nibandhe AS, Bagga B
J AAPOS 2024 Jun;28(3):103903. Epub 2024 Mar 25 doi: 10.1016/j.jaapos.2024.103903. PMID: 38537898
Feng ZX, Liu W, Li Z, Cui Y, Li L, Zhang C
Ophthalmology 2024 May;131(5):589-594. Epub 2023 Dec 9 doi: 10.1016/j.ophtha.2023.12.003. PMID: 38081329
Zhu H, Yu GY
J Stomatol Oral Maxillofac Surg 2022 Nov;123(6):e988-e990. Epub 2022 Jul 21 doi: 10.1016/j.jormas.2022.07.014. PMID: 35870793
Odeh M, Ophir E, Ardekian L, Bornstein J
Ultrasound Obstet Gynecol 2010 Apr;35(4):395-7. doi: 10.1002/uog.7546. PMID: 20069685

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