XK aprosencephaly syndrome
Synonyms: Garcia-Lurie syndrome · XK syndrome · XK-aprosencephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | XK aprosencephaly syndrome | Garcia-Lurie syndrome · XK syndrome · XK-aprosencephaly |
| fr | Syndrome d'aprosencéphalie XK | Aprosencéphalie-XK · Syndrome de Garcia-Lurie |
| de | XK-Aprosenzephalie-Syndrom | Atelenzephalie · Garcia-Lurie-Syndrom · XK-Aprosenzephalie · XK-Syndrom |
| es | Síndrome de aprosencefalia XK | Aprosencefalia XK · Síndrome XK · Síndrome de Garcia-Lurie |
| it | Sindrome XK dell'aprosencefalia/aprosencefalia XK | Atelencefalia |
| nl | XK-aprosencefalie-syndroom | Syndroom van Garcia-Lurie · XK-aprosencefalie · XK-syndroom |
| pt | Síndrome de aprosencefalia XK | Aprosencefalia-XK · Síndrome Garcia-Lurie · Síndrome XK |
| pl | XK brak przodomózgowia | Atelencephaly · Zespół Garcia i Lurie |
| cs | XK aprozencefalie | Atelencefalie · Garciaův-Lurieho syndrom · Garcia-Lurieho syndrom |
| uk | Синдром апрозенцефалії XK | Синдром Гарсіа-Люрі · XK-синдром · XK-апросенцефалія |
| zh | XK脑前部缺无综合征 | Garcia-Lurie综合征 |
| tr | XK aprosensefali sendromu | XK sendromu · XK-aprosensefali · Garcia-Lurie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207770 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.3 | NTBT | index | validated |
| MONDO | 0008811 | E | validated | |
| MeSH | C536767 | E | validated | |
| UMLS | C0795952 | E | validated | |
| GARD | 424 | 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 (1):
- ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
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 | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
12 annotations · validated 2017-09-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000160 | Narrow mouth | |
| Frequent (79-30%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0005288 | Abnormality of the nares | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0002023 | Anal atresia | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000601 | Hypotelorism | |
| HP:0001561 | Polyhydramnios | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3469
- This record as JSON: /data/d/3469.json