X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Synonyms: Johnson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-macrocephaly-macroorchidism syndrome | Johnson syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie | Syndrome de Johnson |
| de | X-chromosomale Intelligenzminderung-Makrozephalie-Makroorchidie-Syndrom | Johnson-Syndrom |
| es | Síndrome de discapacidad intelectual-macrocefalia-macroorquidia ligado al cromosoma X | Síndrome de Johnson |
| it | Sindrome da disabilità intellettiva legata all'X-macrocefalia-macroorchidismo | Sindrome di Johnson |
| nl | X-gebonden intellectuele achterstand - macrocefalie - macro-orchidisme-syndroom | Syndroom van Johnson · X-gebonden intellectuele achterstand - macrocefalie - macro-orchidie-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-macrocefalia-macro-orquidia ligada ao X | Síndrome Johnson |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - makrocefalia - makroorchidyzm | Zespół Johnsona |
| cs | X-vázaný syndrom zahrnující mentální retardaci, makrocefalii a makroorchidismus | Johnsonův syndrom |
| uk | Синдром Х-зчепленої розумової відсталості-макроцефалії-макроорхідізму | Синдром Джонсона |
| zh | X连锁智力障碍-大头畸形-大睾丸综合征 | Johnson综合征 |
| tr | X'e bağlı zihinsel yetersizlik-makrosefali-makroorşidi sendromu | Johnson 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 | 0019419 | E | validated | |
| UMLS | C4304406 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9863601[PMID] |
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 9863601[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000256 | Macrocephaly | |
| HP:0000053 | Macroorchidism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9863601[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85320
- This record as JSON: /data/d/85320.json