What is Arboleda-Tham syndrome (ARTHS)(MRD32)?
Arboleda-Tham syndrome is a rare genetic disorder that presents with intellectual disability, speech delay, a small head (microcephaly), and issues with both the heart and the gastrointestinal system.
Because mental retardation is now referred to as intellectual disability (intellectual developmental disorder), the formerly name: Mental retardation, Autosomal Dominant 32(MRD32) is no longer in use.
What gene changes cause Arboleda-Tham syndrome
(ARTHS)(MRD32)?
Mutations to the KAT6A gene are responsible for causing the syndrome.
It is inherited in an autosomal dominant pattern.
What are the main symptoms of Arboleda-Tham syndrome (ARTHS)(MRD32)?
The main symptom of the syndrome is intellectual disability, including psychomotor delay. Speech delay is also common with the syndrome and in some cases may be limited to zero speech development.
Unique facial features of the syndrome include a small head (microcephaly), a prominent nasal bridge, crossed eyes, and epicanthal folds (skin covering the inner part of the eyelid).
Cardiac and heart issues are also common with the syndrome. These include congenital heart septal defects.
Some individuals may also experience gastrointestinal issues and conditions.
Possible clinical traits/features:
Seizure, Posteriorly rotated ears, Plagiocephaly, Patent ductus arteriosus, Ptosis, Strabismus, Thin upper lip vermilion, Microcephaly, Respiratory distress, Ventricular septal defect, Abnormality of the dentition, Broad nasal tip, Atrial septal defect, Low-set ears, Intellectual disability, Microretrognathia, Muscular hypotonia, Narrow forehead, Prominent nasal bridge, Global developmental delay, Epicanthus, Downturned corners of mouth, Feeding difficulties in infancy, Craniosynostosis, Cerebral visual impairment.
How is it diagnosed?
To find out if someone has a diagnosis of Arboleda-Tham syndrome (ARTHS)(MRD32), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
