Living with Au-Kline syndrome
A genetic condition that affects many body systems, with low muscle tone, delayed development, and distinctive facial features.
Understanding Au-Kline syndrome
People typically have low muscle tone, intellectual disability, and delayed development. Speech and walking come later than usual, and some children never speak or walk on their own. Facial features can include long eyelid openings, drooping eyelids, and a deep groove down the middle of the tongue. The heart, blood vessels, kidneys, and bones can be affected, and some people have difficulty feeding. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and walking
- Intellectual disability
- Low muscle tone
- Distinctive facial features
- Heart differences, such as a hole in the heart wall
- Feeding difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in HNRNPK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HNRNP Family Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the HNRNPK gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: au kline syndrome; auks; hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability; neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation; neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation; neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
Patient organizations
- HNRNP Family FoundationAu-Kline syndrome · United States
- Simons SearchlightAu-Kline syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Au-Kline syndrome.
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