Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lacrimoauriculodentodigital syndrome

LADD syndrome is an autosomal dominant disorder caused by mutations if the genes FGF10, FGFR3 and FGFR2. Symptoms include eye (atresia of the lacrimal system), mouth (stomatitis, difficulties to swallow), ear (anomalies of the auricle, mixed type hearing loss), teeth (caries, delayed dentation), ad fingers (syndactyly, clinodactyly).

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
FGF10
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinitis pigmentosa
Syndromic microphthalmia 6
Usher syndrome

References:

1.

Rohmann E et. al. (2006) Mutations in different components of FGF signaling in LADD syndrome.

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2.

Milunsky JM et. al. (2006) LADD syndrome is caused by FGF10 mutations.

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3.

Shiang EL et. al. (1977) The lacrimo-auriculo-dento-digital syndrome.

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4.

Bamforth JS et. al. (1992) Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.

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5.

Calabro A et. al. (1987) Lacrimo-auriculo-dento-digital (LADD) syndrome.

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6.

Wiedemann HR et. al. (1986) LADD syndrome: report of new cases and review of the clinical spectrum.

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7.

Thompson E et. al. (1985) Phenotypic variation in LADD syndrome.

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8.

Hollister DW et. al. (1973) The lacrimo-auriculo-dento-digital syndrome.

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9.

None (1967) Mesoectodermal dysplasia. A new combination of anomalies.

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10.

Francannet C et. al. (1994) LADD syndrome in five members of a three-generation family and prenatal diagnosis.

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11.

Cortes M et. al. (2005) Limbal stem cell deficiency associated with LADD syndrome.

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Update: Sept. 26, 2018