Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lakrimo-aurikulo-dento-digitales Syndrom

Das LADD-Syndrom ist eine autosomal dominante Erkrankung die durch Mutationen der Gene FGF10, FGFR3 und FGFR2 hervorgerufen wird. Die Symptome betreffen das Auge (Atresie des Tränen-Nasenganges), Mund (Stomatitis, Schluckstörungen wegen mangelnder Speichelsekretion), Ohr (becherförmige Ohrmuscheln, gemischte Schwerhörigkeit), Zähne (verspäteter Zahndurchbruch, Fehlstellungen, Schmelzdysplasie, Karies) und Finger (Syndaktylie, Klinodaktylie, triphalangealer Daumen).

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Conjunctivitis lignosa
Fischaugen-Erkrankung
Hereditäres Glaucom
IVIC-Syndrom
Knobloch-Syndrome 1
Lakrimo-aurikulo-dento-digitales Syndrom
FGF10
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinitis pigmentosa 17
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Usher-Syndrom

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
Update: 24. November 2017