ORPHA:776
Lujan-Fryns syndrome
Synonyms: X-linked intellectual disability with marfanoid habitus
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lujan-Fryns syndrome | X-linked intellectual disability with marfanoid habitus |
| fr | Syndrome de Lujan-Fryns | Syndrome marfanoïde avec déficience intellectuelle liée à l'X |
| de | Lujan-Fryns-Syndrom | X-chromosomale Intelligenzminderung mit marfanoidem Habitus |
| es | Síndrome de Lujan-Fryns | Discapacidad intelectual con hábito marfanoide ligada al cromosoma X |
| it | Sindrome di Lujan-Fryns | Disabilità intellettiva legata all'X con habitus marfanoide |
| nl | Syndroom van Lujan-Fryns | X-gebonden intellectuele achterstand met marfanoïde habitus |
| pt | Síndrome Lujan-Fryns | Perturbação do desenvolvimento intelectual ligada ao X com habitus marfanoide |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X z wyglądem marfanoidalnym | Zespół Lujana · Zespół Lujana i Frynsa |
| cs | X-vázaná mentální retardace s marfanoidním habitem | XLMR s marfanoidním habitem · Lujanův syndrom · Lujanův-Frynsův syndrom · Lujan-Frynsův syndrom |
| uk | Синдром Луяна-Фринса | Х-зчеплена розумова відсталість з марфаноїдним габітусом |
| zh | X连锁智力障碍伴马凡综合征样体质 | Lujan-Fryns综合征 |
| tr | Marfanoid habitus ile X'e bağlı zihinsel yetersizlik | Lujan sendromu · Lujan-Fryns sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300799 | BTNT | validated | |
| OMIM | 309520 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010655 | E | validated | |
| MeSH | C537724 | E | validated | |
| UMLS | C0796022 | E | validated | |
| GARD | 3307 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:163953X-linked intellectual disability, Raymond type moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED12 | Disease-causing germline mutation(s) in | Assessed | HGNC:11957 | ENSG00000184634 | 300188 | Xq13.1 | mediator complex subunit 12 | 17369503[PMID] |
| UPF3B | Disease-causing germline mutation(s) in | Assessed | HGNC:20439 | ENSG00000125351 | 300298 | Xq24 | UPF3B regulator of nonsense mediated mRNA decay | 17704778[PMID] |
| ZDHHC9 | Disease-causing germline mutation(s) in | Assessed | HGNC:18475 | ENSG00000188706 | 300646 | Xq26.1 | zDHHC palmitoyltransferase 9 | 23506379[PMID]_17436253[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000708 | Atypical behavior | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0001611 | Hypernasal speech | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001382 | Joint hypermobility | |
| HP:0000053 | Macroorchidism | |
| HP:0000275 | Narrow face | |
| HP:0000767 | Pectus excavatum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000678 | Dental crowding | |
| HP:0000738 | Hallucinations | |
| HP:0000369 | Low-set ears | |
| HP:0000411 | Protruding ear | |
| HP:0000709 | Psychosis | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/776
- This record as JSON: /data/d/776.json