Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
3p24.1
Loeys-Dietz syndrome-2 (LDS2) is an autosomal dominant connective tissue disorder characterized by hypertelorism, cleft palate or bifid uvula, and arterial tortuosity. Arterial aneurysms are aggressive, with intracranial aneurysms leading to subarachnoid hemorrhage, and risk of aortic dissection is high. [From OMIM]
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|
| 610168.1 | Saudi Arabia | Female | Abnormal aortic morphology; Joint laxity Abnormal aortic morphology; Joint laxity  | NM_003242.6:c.1301T>A | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | de novo mutation |