Osteogenesis imperfecta type 7- MedGen UID:
- 343981
- •Concept ID:
- C1853162
- •
- Disease or Syndrome
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).
Congenital heart defects, multiple types, 6- MedGen UID:
- 462571
- •Concept ID:
- C3151221
- •
- Congenital Abnormality
Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Tetraamelia syndrome 2- MedGen UID:
- 1648284
- •Concept ID:
- C4747923
- •
- Disease or Syndrome
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).
For a discussion of genetic heterogeneity of TETAMS, see 273395.