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ZTTK Syndrome

What is ZTTK Syndrome?

A community for people who have been diagnosed with ZTTK Syndrome. 


A community for people who have been diagnosed with ZTTK Syndrome. 

ZTTK was first discovered in 2015 with the original studies published in 2016. There is not much research to date, but there are research proposals in progress. There is a parent group on Facebook, and there are ZTTK Syndrome individuals throughout the world. 

There are around 60 identified ZTTK syndrome individuals in the world. 

Synonyms for ZTTK Syndrome has not been added yet.

We are here to support individuals with ZTTK Syndrome and their caregivers. 

This is the description of ZTTK Syndrome from the OMIM Website: 

"ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum."


Name Description
Congenial heart defects Congenial heart defects
Muscular weakness Muscular weakness
Immune System dysfunction Immune System dysfunction with an inappropriate response to stimuli.
Loss of neurologic abilities Loss of neurologic abilities
(R) Developmental Delays Development Delays vary
Decreased vision Decreased vision occurs in about 68% of patients
Failure to thrive Failure to thrive
Abnormal Brain MRI Scans Abnormal Brain MRI Scans

ZTTK Syndrome as diagnosed by a mutation of the SON gene

WES sequencing to detect a mutation of the SON gene

None at this time. 

Please join our community for support and research updates. 

Please join our ZTTK Son-Shine Group on facebook for parents and caregivers. 


ZTTK Syndrome community discussions will be posted here.

There are no new discussions. Start one now!!

Community Resources
Title Description Date Link

Clinical Trials

Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

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I am the mother of a child with ZTTK syndrome. 

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Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.