X-linked intellectual disability, Armfield type
Synonyms: Armfield syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Armfield type | Armfield syndrome |
| fr | Déficience intellectuelle liée à l'X type Armfield | Syndrome d'Armfield |
| de | Intelligenzminderung, X-chromosomale, Typ Armfield | Armfield-Syndrom |
| es | Discapacidad intelectual ligada al cromosoma X tipo Armfield | Síndrome de Armfield |
| it | Disabilità intellettiva legata all'X, tipo Armfield | Sindrome di Armfield |
| nl | X-gebonden intellectuele achterstand, Armfield-type | Syndroom van Armfield |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Armfield | Síndrome Armfield |
| pl | Niepełnosprawność intelektualna typu Armfielda sprzężona z chromosomem X | Zespół Armfielda |
| cs | X-vázaná mentální retardace, Armfieldův typ | Armfieldův syndrom |
| uk | Х-зчеплена розумова відсталість, тип Армфілда | Синдром Армфілда |
| zh | X连锁智力障碍，Armfield型 | Armfield综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Armfield tipi | Armfield sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300261 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010284 | E | validated | |
| UMLS | C4305022 | 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 (4):
- 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 - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 6 cases | Worldwide | Case(s) | Validated | 10398235[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10398235[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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000337 | Broad forehead | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000501 | Glaucoma | |
| HP:0000023 | Inguinal hernia | |
| HP:0000400 | Macrotia | |
| HP:0011800 | Midface retrusion | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003355 | Aminoaciduria | |
| HP:0000248 | Brachycephaly | |
| HP:0005306 | Capillary hemangioma | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000996 | Facial capillary hemangioma | |
| HP:0012023 | Galactosuria | |
| HP:0001377 | Limited elbow extension | |
| HP:0400004 | Long ear | |
| HP:0000256 | Macrocephaly | |
| HP:0000303 | Mandibular prognathia | |
| HP:0007413 | Nevus flammeus of the forehead | |
| HP:0001992 | Organic aciduria | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000486 | Strabismus | |
| HP:0000154 | Wide mouth | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 10398235[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85276
- This record as JSON: /data/d/85276.json