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Items: 3

1.

Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

MedGen UID:
444003
Concept ID:
C2931214
Disease or Syndrome
2.

LADD syndrome 1

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. [from OMIM]

MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
3.

Hypoplastic lacrimal duct

MedGen UID:
368837
Concept ID:
C1968574
Finding
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