Lung agenesis-heart defect-thumb anomalies syndrome- MedGen UID:
- 477585
- •Concept ID:
- C3275954
- •
- Disease or Syndrome
The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).
Fraser syndrome 3- MedGen UID:
- 1621907
- •Concept ID:
- C4540040
- •
- Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.