Partington syndrome

What is Partington syndrome?

Partington syndrome is a rare neurological and genetic syndrome. The main features of the syndrome are intellectual disability (usually mild to moderate) and a condition known as dystonia of the hands. Because of how the syndrome is inherited it occurs much more frequently in males than females.

This syndrome is also known as:
Partington X-Linked Mental Retardation Syndrome; Mental Retardation, X-Linked, syndromic 1; Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures; MEntal Retardarion, X-Linked 36; MRX36

What gene changes cause Partington syndrome?

Changes in the ARX gene are responsible for causing the syndrome. Other syndromes are also caused by mutations in this gene.

The syndrome is inherited in an X-linked recessive pattern. Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Partington syndrome?

The main symptoms of the syndrome include mild to moderate intellectual disability. Behavioral issues are also common in affected individuals.

  • Dystonia of the hands, involuntary painful muscle contractions including repetitive movements, is also common.
  • Dysarthria is another main symptom and this means issues with being able to articulate speech.
  • Problems with gait, how an individual walks, and seizures are also symptoms of the syndrome.

Possible clinical traits/features:
Short neck, Stenosis of the external auditory canal, Renal cyst, Renal dysplasia, Webbed neck, Thin vermilion border, Single transverse palmar crease, Sparse eyelashes, Seizure, Postaxial hand polydactyly, Postaxial foot polydactyly, Obesity, Omphalocele, Patent ductus arteriosus, Inguinal hernia, Intellectual disability, profound, Intestinal malrotation, Short nose, Anteverted nares, Muscular hypotonia, Rhizomelia, Long philtrum, Macroglossia, Micrognathia, Mesomelia, Joint hypermobility, Macrotia, Kyphoscoliosis, Cryptorchidism, Decreased body weight, Postnatal microcephaly, Flexion contracture, Coarse facial features, Clinodactyly of the 5th finger, Congenital hip dislocation, Congenital diaphragmatic hernia, Coarctation of aorta, Delayed eruption of teeth, Delayed skeletal maturation, Epicanthus, Everted lower lip vermilion, Downturned corners of mouth, Cognitive impairment, Hearing impairment, Short phalanx of finger, Hypospadias, Hypohidrosis, Hypopigmented streaks, Hypoplastic labia majora, Short toe.

How is it diagnosed?

To find out if someone has a diagnosis of Partington syndrome, 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.

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