Atkin-Flaitz syndrome
Synonyms: X-linked intellectual disability, Atkin type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atkin-Flaitz syndrome | X-linked intellectual disability, Atkin type |
| fr | Syndrome d'Atkin-Flaitz | Déficience intellectuelle liée à l'X type Atkin |
| de | Atkin-Flaitz-Syndrom | Intelligenzminderung, X-chromosomale, Typ Atkin |
| es | Síndrome de Atkin-Flaitz | Discapacidad intelectual ligada al cromosoma X tipo Atkin |
| it | Sindrome di Atkin-Flaitz | Ritardo mentale legato all'X, tipo Atkin · Disabilità cognitiva legata all'X, tipo Atkin |
| nl | Syndroom van Atkin-Flaitz | X-gebonden intellectuele achterstand, Atkin-type |
| pt | Síndrome Atkin-Flaitz | Perturbação do desenvolvimento intelectual ligado ao X, tipo Atkin |
| pl | Zespół Atkina i Flaitza | Niepełnosprawność intelektualna sprzężona z chromosomem X, typu Atkina |
| cs | Atkinové-Flaitzové syndrom | X-vázaná mentální retardace, Atkinové typ · Atkin-Flaitzové syndrom |
| uk | Синдром Аткіна-Флейца | Х-зчеплена розумова відсталість, тип Аткінга |
| zh | Atkin-Flaitz综合征 | X连锁智力障碍，Atkin型 |
| tr | Atkin-Flaitz sendromu | X'e bağlı zihinsel yetersizlik, Atkin tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300431 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010323 | E | validated | |
| MeSH | C538195 | E | validated | |
| UMLS | C0796206 | E | validated | |
| GARD | 3537 | 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 | 14 cases | Worldwide | Case(s) | Validated | 4025397[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4025397[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0000280 | Coarse facial features | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000053 | Macroorchidism | |
| HP:0001593 | Maxillary lateral incisor microdontia | |
| HP:0001513 | Obesity | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0004322 | Short stature | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0000400 | Macrotia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1193
- This record as JSON: /data/d/1193.json