Hydrolethalus Syndrome 1 C1856016
A severe developmental disorder caused by genetic mutations that affect brain and skeletal formation. Affected infants typically have profound abnormalities and do not survive beyond infancy.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Prenatal Monitoring and Diagnosis
Comprehensive prenatal monitoring including detailed ultrasound for diagnosis confirmation, assessment of severity, and pregnancy management planning.
Genetic Counseling Services
Detailed genetic counseling for the couple regarding the autosomal recessive inheritance pattern, 25% recurrence risk, and options for future pregnancies including preimplantation genetic testing.
Additional treatment options
Palliative Pregnancy Care
Perinatal palliative care services to provide support through pregnancy continuation, birth planning, and memory-making opportunities if parents choose to continue the pregnancy.
complementaryBereavement and Family Support
Comprehensive bereavement support including counseling, support groups, and connection to resources for families who experience pregnancy loss or neonatal loss.
psychologicalNeonatal Comfort Care
If pregnancy continues, provide compassionate neonatal care focused on comfort, temperature regulation, and allowing family bonding time without unnecessary invasive interventions.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Hydrolethalus Syndrome 1 C1856016?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Meeks JC, Lindqvist K, Salonen R. Hydrolethalus syndrome: Clinical spectrum and molecular basis. Orphanet J Rare Dis. 2020.
Alanne L, Visala P, Kestilä M. Novel HYLS1 mutations in hydrolethalus syndrome. Clin Genet. 2019.
Seppälä EH, Jakkula EV, Aula P. Prenatal diagnosis of hydrolethalus syndrome with ultrasound. Prenat Diagn. 2017.
Kivirikko SA, Karjalainen MK, Therman PE. Management of rare hydrocephalus syndromes: Hydrolethalus and similar disorders. Eur J Med Genet. 2022.
Medication Comparisons
Compare medications used to treat Hydrolethalus Syndrome 1 C1856016. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy