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- Abdominal birth defects
During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude.
- Urinary system birth defects
Common birth defects of the urinary system include hypospadias, obstructive defects of the renal pelvis and renal agenesis.
- Prader-Willi syndrome
A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity.
- Cri du chat syndrome
Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems.
- Syringomyelia
Syringomyelia is the growth of a cyst in the spinal cord that may result in paraplegia or quadriplegia if not treated.
- Treacher Collins syndrome
Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss.
- Dwarfism
Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth.
- Fragile X syndrome
The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic.
- Developmental dysplasia of the hip (DDH)
Around 95 per cent of babies born with developmental dysplasia of the hip can be successfully treated.
- Tay-Sachs disease
Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians.