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Lacrimo-auriculo-dento-digital syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Lacrimo-auriculo-dento-digital syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare genetic disorder characterized by malformations of the tear-producing system, ears, teeth, and fingers.

Overview

LADD syndrome primarily affects the eyes, ears, mouth, and hands. The condition is named for the specific systems it impacts:

  • Lacrimo-: Defects in the tear-producing system, such as underdeveloped tear ducts or blockage of the nasolacrimal duct, leading to chronic tearing, inflammation, or dry eyes.
  • Auriculo-: Ear abnormalities, including low-set, cup-shaped ears and hearing loss (sensorineural, conductive, or mixed).
  • Dento-: Dental abnormalities, including small, underdeveloped teeth with thin enamel, peg-shaped incisors, and decreased saliva production (xerostomia) which increases cavity risk.
  • Digital-: Hand and finger deformities, such as abnormally small or absent thumbs, syndactyly (fused fingers), extra or missing fingers, and curved pinky fingers.

Other potential symptoms include kidney problems, recurrent urinary tract infections, and cleft lip or palate.

Frequency

LADD syndrome is a rare condition; at least 60 cases have been described in the scientific literature.

Causes

Mutations in the FGFR2, FGFR3, or FGF10 genes can cause LADD syndrome. These genes provide instructions for proteins involved in fibroblast growth factor signaling, which controls cell growth, maturation, and the development of various tissues, including the lacrimal glands, ears, teeth, and skeleton. Mutations disrupt this signaling, impairing the formation of these structures.

Inheritance

This condition is inherited in an autosomal dominant pattern. A mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder. Some cases are inherited from an affected parent, while others result from new mutations in the gene in people with no family history of the disorder.

Frequently Asked Questions

Molecular testing for pathogenic variants in FGFR2, FGFR3, or FGF10 confirms the diagnosis and identifies the specific mutation. Because LADD follows an autosomal dominant inheritance, each child of an affected individual has a 50 % chance of inheriting the mutation. If a parent is unaffected but has an affected child, testing can determine whether the mutation arose de novo. Genetic counseling helps families understand recurrence risk, discuss prenatal testing options (chorionic villus sampling or amniocentesis), and consider assisted reproductive technologies with pre‑implantation genetic diagnosis.
comprehensive audiologic assessment (pure‑tone audiometry, tympanometry) should be performed to characterize the type and degree of hearing loss. If conductive loss from middle‑ear effusion is present, tympanostomy tubes can improve ventilation and reduce infections. Sensorineural components may benefit from hearing aids or, in severe cases, cochlear implants. Regular ENT follow‑up is essential because infections can exacerbate dental and speech development issues.
LADD often causes nasolacrimal duct obstruction or under‑developed lacrimal glands, leading to both excessive tearing (epiphora) from blockage and dry‑eye from insufficient tear production. Initial management includes gentle lacrimal duct probing or silicone stent placement by an ophthalmologist to restore drainage. Lubricating eye drops, ointments, and protective goggles are used for dry‑eye relief. In refractory cases, dacryocystorhinostomy (surgical creation of a new tear drainage pathway) may be needed.
Children with LADD have microdontia, peg‑shaped incisors, and xerostomia, all of which increase caries risk. Preventive measures include: (1) fluoride varnish applications every three months; (2) a prescription‑strength fluoride toothpaste (1,500 ppm) used twice daily; (3) sugar‑free chewing gum or saliva substitutes to stimulate saliva; (4) regular dental cleanings every six months; and (5) a diet low in fermentable carbohydrates. Orthodontic consultation may be needed for alignment issues once the permanent dentition erupts.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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