a.k.a. fetal retinoid syndrome


Key features of fetal retinoid syndrome include:
1. Craniofacial Dysmorphisms: These can include micrognathia , cleft palate/cleft lip , low-set ears, microtia and Hypertelorism
2. Cardiac Defects: TGA , tetralogy of Fallot, and ventricular septal defects.
3. Thymic Abnormalities: Hypoplasia or aplasia of the thymus can occur, leading to immunodeficiency due to impaired T-cell development.
4. Central Nervous System Defects: Hydrocephalus , microcephaly, and neural tube defects. Additionally, abnormalities in neural crest cell migration can lead to defects in cranial nerve development, such as oculomotor nerve synkinesis.
5. Ocular Defects: Eye malformations, such as microphthalmia, anophthalmia, and coloboma, are also associated with fetal retinoid syndrome.