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Start free with EleplanLujan-Fryns syndrome
ORPHA:776Malformation syndrome
Also called X-linked intellectual disability with marfanoid habitus
What it is
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
12Common30–79%
11Sometimes5–29%
11- Abnormality of the dentition
- Brachycephaly
- Brachydactyly
- Camptodactyly of finger
- Dental crowding
- Hallucinations
- Low-set ears
- Protruding ear
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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