Chondroectodermal Dysplasia With Night Blindness C4706300
A rare genetic disorder combining abnormalities of ectodermal tissues with progressive night vision problems. It affects skin, hair, teeth, and eyes from early life. Management addresses each symptom with specialized care.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(musculoskeletal)Ectodermal dysplasia
(musculoskeletal)Skeletal abnormality
(musculoskeletal)Retinal dystrophy
(nervous system)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Vitamin A and Related Carotenoid Supplementation
Vitamin A supplementation may help address retinal dysfunction contributing to night blindness in this syndrome. Deficiency correction is essential for optimal photoreceptor function.
Comprehensive Ophthalmologic Surveillance
Regular eye examinations including electroretinography and visual field testing to monitor progression of night blindness and any associated retinal changes.
Additional treatment options
Environmental Adaptation and Safety Measures
Implementing safety modifications at home and school including adequate lighting, tactile markers, and nightlights to compensate for reduced vision in low-light conditions.
lifestyleLow Vision Aids and Orientation Training
Specialized low-vision devices such as magnifiers and tinted lenses, combined with orientation and mobility training to maximize functional vision.
complementaryGenetic Counseling and Family Support
Genetic counseling to understand inheritance patterns, recurrence risks, and available family planning options. Psychological support helps families cope with chronic condition management.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Chondroectodermal Dysplasia With Night Blindness C4706300?
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.
Kokott JP, Weber MH. Clinical Practice Guidelines for Diagnosis and Management of Skeletal Dysplasias. Orphanet J Rare Dis. 2022.
Hald JD, Folkestad L, Bagger YZ. Skeletal Dysplasias: A Review of Clinical and Molecular Features. Calcif Tissue Int. 2021.
Storm NL, Williams BR. Ellis-van Creveld Syndrome: Clinical Manifestations and Genetic Basis. Am J Med Genet A. 2020.
Rothschild MP, Chen LH. Ocular Findings in Patients with Skeletal Dysplasias: A Cross-Sectional Study. Ophthalmic Genet. 2019.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy