X-linked intellectual disability-acromegaly-hyperactivity syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-acromegaly-hyperactivity syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité | |
| de | X-chromosomale Intelligenzminderung-Akromegalie-Hyperaktivität-Syndrom | |
| es | Síndrome de discapacidad intelectual-acromegalia-hiperactividad ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X-acromegalia-iperattività | |
| nl | X-gebonden intellectuele achterstand - acromegalie - hyperactiviteit-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual ligada ao X-acromegalia-hiperatividade | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - akromegalia - hiperaktywność | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, akromegalii a hyperaktivitu | |
| uk | Синдром Х-зчепленої розумової відсталості-акромегалії-гіперактивності | |
| zh | X连锁智力障碍-肢端肥大症-多动综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-akromegali-hiperaktivite sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019424 | E | validated | |
| UMLS | C4304407 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2018059[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2018059[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2017-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007361 | Abnormality of the pons | |
| HP:0000718 | Aggressive behavior | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0001260 | Dysarthria | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0000752 | Hyperactivity | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0003189 | Long nose | |
| HP:0000053 | Macroorchidism | |
| HP:0009745 | Spinalarachnoid cyst | |
| HP:0000325 | Triangular face | |
| Excluded (0%) | ||
| HP:0003564 | Folate-dependent fragile site at Xq28 | |
Annotation source: 2018059[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85327
- This record as JSON: /data/d/85327.json