ZTTK SON-Shine Foundation

Cycle 3

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ZTTK is an ultrarare, monogenic, neurodevelopmental disease. The most common symptoms of ZTTK are intellectual disabiilty, speech delay, motor delay, facial morphology, hypotonia, feeding difficulties, and epilepsy.

Last updated 04/30/2026

Clinical

Disease Class

Ciliopathies

Genetic diseases

Inherited metabolic disorder

Multi-system genetic syndromes

Neurological diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Adrenal glands

Arteries

Bladder

Blood

Bone marrow

Bones

Brain

Connective tissue / joints

Ears

Esophagus

Eyes

Gallbladder

Hair

Heart

Intestines

Kidneys

Lungs

Lymph fluid, nodes, ducts, vessels

Mouth / teeth

Muscles

Nails

Nerves

Nose

Pancreas

Scrotum

Skin

Spinal cord

Stomach

Throat/pharynx

Thyroid

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

SON

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

De novo

Newborn Screening

Disease Mechanism(s)

Abnormal telomere maintenance

Cilia dysfunction

RNA processing/splicing defect

Transcriptional regulation defect

Unknown

Age of Onset

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Pre-Birth

Affected Sex(es)

Female

Intersex

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Wealthy developed countries that have access to whole exome/genome sequencing see higher prevalence rates due to ability to diagnose

Symptoms / Phenotypes

abnormal brain features

abnormal circulating immunoglobulin concentration

abnormal ear morphology

abnormal fingernail morphology

abnormal hair morphology

abnormal heart morphology

abnormal oral morphology

abnormal respiratory system morphology

abnormal skeletal morphology

abnormal skin morphology

abnormality of joint mobility

abnormality of the kidney

abnormality of vitamin metabolism

adrenal insufficiency

anemia

anxiety

asthma

attention disorders / ADHD

atypical puberty

autistic behavior

blood disorders

breathing difficulties

cardiac abnormalities

craniofacial abnormalities

cutaneous photosensitivity

developmental delay

distinctive facial features

excessive salivation

failure to thrive

feeding difficulties

fingernail dysplasia

gastroesophageal reflux

gastrointestinal disorders

growth delay / deficiency

hallucinations

headaches / migraines

hearing loss / hearing impairment

hydrocephalus

hypertension

hypertonia

hypoglycemia

hypohidrosis

hypotonia

immune deficiency / immunodeficiency

infection, ear / otits media

infection, lung

inflammatory abnormality of the skin

intellectual delay / global developmental delay

kidney disease / nephropathy

laryngomalacia

mast cell activation syndrome (MCAS)

nose bleed / epistaxis

polycythemia

poor wound healing

recurrent urinary tract infections

seizures / epilepsy

short stature

sleep disorders

stroke

unusual skin infection

vision problems

vomiting / nausea

Biomarkers

None

Existing Therapies

None

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

Gene therapy

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In preclinical development

Therapeutic Development Role

None

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Plasma

Cell Lines, Institution

COMBINEDBrain

Thermo Fisher Scientific

Cell Lines, Involvement

Own

Cell Lines, share

All our cell lines are freely available

Disease Model

Mouse

Disease Model, Involvement

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Not specified/left blank

Clinical Trial Role

Not involved

Biobank, Institution

COMBINEDBrain

Biobank, Involvement

Own

Center of Excellence, Institution

None

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Other

Platform, Registry

Citizen Health

Natural History Study

No, we do not have a natural history study and have no plans to create or collaborate on one

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

Diagnostic Guidelines

In the process of creating diagnostic guidance for our website

In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal

In the process of developing accredited guidelines

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

Asia

Europe

North America

Asia

Europe

North America

None