Introduction
Congenital malformations, also known as birth defects, can be categorised based on their type, cause, or the body systems they involve. These malformations can be broadly classified into several categories, each with distinct characteristics and underlying mechanisms:
Structural Malformations:
- These involve abnormalities in the shape, size, or formation of a specific body part or organ. These malformations are typically visible and can affect the normal function of the affected structure.
- Examples of structural malformations include:
- Neural tube defects, such as spina bifida and anencephaly.
- Craniofacial malformations, including cleft lip and/or palate, and micrognathia (small jaw).
- Limb abnormalities, like polydactyly (extra fingers/toes), syndactyly (fused fingers/toes), and clubfoot.
- Cardiac defects, such as ventricular septal defect (VSD), tetralogy of Fallot, and transposition of the great arteries.
- Genitourinary malformations, such as hypospadias (abnormal urethral opening) and renal agenesis (missing kidney).
Functional Malformations:
- These malformations may not present with visible abnormalities but result in impaired function of organs or systems.
- Examples include:
- Metabolic disorders, such as phenylketonuria (PKU) and galactosemia.
- Neurological deficits, such as epilepsy (resulting from structural brain anomalies) and intellectual disability from genetic defects, for example, Fragile X Syndrome.