Thuong T. Ha

Pediatric Geneticist

📍 Adelaide

About of Thuong T. Ha

Thuong T. Ha is a paediatric geneticist based in Adelaide, SA. He looks after children who may have genetic conditions, especially when the cause is hard to spot at first. Families often come with questions, lots of notes, and a big worry about what happens next. In many cases, genetic testing helps make sense of the patterns seen in a child’s health and development.


As a paediatric geneticist, Thuong T. Ha focuses on conditions that can affect how the brain develops and how the body grows. That can include issues linked to brain structure, seizures, and other neurological problems such as cortical dysplasia, periventricular heterotopia, polymicrogyria, and Lennox-Gastaut syndrome (LGS). At times, symptoms like developmental delay or changes seen on brain imaging are the main reason a family reaches out.


He also works with children and families dealing with growth and skeletal conditions. Some examples include microcephalic osteodysplastic primordial dwarfism types 1 and 2 (MOPD1 and MOPD2), acromicric dysplasia, and various forms of chondrodysplasia and brachydactyly. These diagnoses can bring their own challenges, from everyday health needs to how a child develops over time.


Genetics can also affect blood and muscles, and Thuong T. Ha helps sort out those rare causes too. For example, RUNX1 familial platelet disorder is one condition that can impact platelets and bleeding risk. Rhabdomyolysis can also be part of the picture in some families, and genetic input can be important when there’s a repeated pattern.


In addition, he supports families with other syndromes listed in his clinical care, such as Aicardi syndrome, Knobloch syndrome, Schwartz-Jampel syndrome, and X-linked spondyloepiphyseal dysplasia tarda. Each child is different, even when the overall label looks similar, so the plan needs to fit the child’s specific needs.


Over time, genetic information can help guide next steps in care. That might mean planning follow-up, understanding likely outcomes, and talking through risks for future pregnancies. Thuong T. Ha also contributes to medical publications, helping keep clinical knowledge up to date.


Care like this is usually a team effort, with doctors, allied health staff, and family working together. Thuong T. Ha’s role is to connect the genetics to the real life side of caring for a child—clear answers where possible, and practical guidance along the way.

Services & Conditions Treated

Aicardi SyndromeFamilial PorencephalyPorencephalySeckel SyndromeAcromicric DysplasiaAutosomal Recessive Primary MicrocephalyBrachydactyly Mononen TypeCaffey DiseaseChondrodystrophyCortical DysplasiaEncephaloceleKnobloch SyndromeLennox-Gastaut Syndrome (LGS)Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)Periventricular HeterotopiaPolymicrogyriaRhabdomyolysisRUNX1 Familial Platelet DisorderSchwartz-Jampel SyndromeX-Linked Spondyloepiphyseal Dysplasia Tarda

Publications

1 total

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

medRxiv : the preprint server for health sciences • November 28, 2024

Frequently Asked Questions

What services does Thuong T. Ha offer?
Thuong T. Ha provides genetic assessment and care for a range of conditions, including Aicardi Syndrome, Porencephaly and related disorders, Seckel Syndrome, various skeletal and developmental conditions, and genetic platelet disorders. The focus is on investigation, diagnosis and management in pediatric patients.
Which conditions are treated by this practice?
Conditions include Aicardi Syndrome, Familial Porencephaly, Porencephaly, Seckel Syndrome, Acromicric Dysplasia, Autosomal Recessive Primary Microcephaly, Brachydactyly Mononen Type, Caffey Disease, Chondrodystrophy, Cortical Dysplasia, Encephalocele, Knobloch Syndrome, Lennox-Gastaut Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types 1 and 2, Periventricular Heterotopia, Polymicrogyria, Rhabdomyolysis, RUNX1 Familial Platelet Disorder, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.
Where is the clinic located?
The clinic is based in Adelaide, South Australia. If you’re unsure about directions or need help getting there, please check the practice address when you book.
How do I book an appointment?
For appointment details and booking, please contact the clinic or check the online booking options provided by the practice. The team can help organise the right consult type for a child and coordinate any needed tests.
What should I bring to a genetic appointment for my child?
Bring any relevant medical records, previous test results, imaging reports, and a list of questions you have. If there are specific concerns about a condition on the list of services, note them down to discuss with the doctor.
What can parents expect during a first visit?
During the first visit, the doctor will review your child’s medical history, examine your child as needed, discuss possible genetic factors, and outline potential tests or next steps. The aim is to make a clear plan that suits your child’s needs.

Contact Information

Adelaide, SA, Australia

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