Alan S. Ma is a medical geneticist based in Sydney, NSW, Australia.
He works with people and families who are trying to understand an inherited condition. That can mean babies and children, but it can also mean adults who are dealing with long-term health issues that started early or run in the family. At times, the questions are about what’s causing a set of symptoms. Other times, it’s about what the result could mean for future pregnancies and family planning.
In many cases, Alan looks after conditions linked to development, growth, eyesight, hearing, and body structure. This can include issues like congenital cataract, aniridia, and Axenfeld-Rieger syndrome. He also helps with syndromes that affect the face and body, such as DiGeorge syndrome and Beckwith-Wiedemann syndrome. Some referrals are for rare connective tissue or skeletal conditions, including Cantu syndrome and arthrogryposis multiplex congenita.
There are also times when the focus is on broader health problems. For example, referrals may involve immune issues like immune defects related to absence of the thymus, or hormone-related problems such as hypoparathyroidism. At times, the symptoms can include seizures in children, peripheral neuropathy, or problems with blood pressure in infants. Alan’s role is to help make sense of the full picture, not just one symptom.
He also works with conditions that affect skin and hair, or that cause changes in body shape and growth, including cases like hypertrichosis, gigantism, and syndromes that involve abnormal facial features. If there are concerns about delayed or worsening vision, he can also be involved in conditions like cone-rod dystrophy and late-onset retinal degeneration.
Overall, Alan’s practice is about genetic answers and clear next steps. He supports families through a lot of uncertainty, while helping clinicians match symptoms with likely genetic causes.