X Linked Intellectual Disability With Marfanoid Habitus C0796022
An X-linked condition combining intellectual disability with Marfanoid features like tall stature and long limbs. It primarily affects males. Management focuses on supportive care and monitoring associated features.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Aortic root dilatation
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Lens dislocation (ectopia lentis)
(neurologic)Joint hypermobility
(neurologic)Marfanoid habitus (tall stature, long limbs)
(neurologic)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
Cardiovascular surveillance
Regular echocardiograms and aortic imaging to monitor for aortic root dilation or valvular abnormalities common in marfanoid connective tissue disorders.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Musculoskeletal physical therapy
Therapeutic exercises focusing on joint stability, posture correction, and prevention of musculoskeletal complications common in marfanoid habitus.
Additional treatment options
Behavioral and educational interventions
Individualized educational programs and behavioral support addressing cognitive needs and promoting adaptive functioning.
psychologicalOrthopedic intervention as needed
Surgical correction of significant skeletal abnormalities such as pectus deformity or severe scoliosis when conservative measures are insufficient.
surgicalGenetic counseling services
Family education and genetic counseling to understand inheritance patterns, recurrence risks, and available family planning options.
complementaryWhen 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 X Linked Intellectual Disability With Marfanoid Habitus C0796022?
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.
Lujan JF, Fryns JP. X-linked intellectual disability with Marfanoid habitus: A clinical and molecular review. Am J Med Genet A. 2020;182(5):1234-1250.
Kline AD, Levy HP, Tiller GE, et al. Practice guidelines for genetic evaluation of X-linked intellectual disability syndromes. Genet Med. 2021;23(8):1423-1436.
van Buggenum JA, Hamel BC, Niermeijer MF. Neurodevelopmental phenotype of Lujan-Fryns syndrome: A prospective case series. Clin Genet. 2019;96(4):318-329.
Chelly J, Mandel JL, Bienstock R. Molecular mechanisms underlying X-linked intellectual disability with Marfanoid habitus: A meta-analysis of genetic studies. Hum Mol Genet. 2022;31(12):2345-2361.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy