Agnathia-holoprosencephaly-situs inversus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Agnathia-holoprosencephaly-situs inversus syndrome | |
| fr | Syndrome d'agnathie-holoprosencéphalie-situs inversus | |
| de | Agnathie-Holoprosenzephalie-Situs inversus-Syndrom | |
| es | Síndrome de agnatia-holoprosencefalia-situs inversus | |
| it | Agnatia - oloprosencefalia - situs inversus | |
| nl | Agnathie - holoprosencefalie - situs inversus-syndroom | |
| pt | Síndrome de agnatia-holoprosencefalia-situs inversus | |
| pl | Brak żuchwy - holoprozencefalia - odwrotne ułożenie trzewi | |
| cs | Syndrom zahrnující agnatii, holoprosencefalii a situs inversus | Syndrom zahrnující chybění brady, holoprosencefalii a situs inversus |
| uk | Синдром агнатії-голопрозенцефалії-зворотного розташування | |
| zh | 无颌-前脑无裂畸形-转位综合征 | |
| tr | Agnati-holoprosensefali-situs inversus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202650 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008740 | E | validated | |
| UMLS | C4302678 | E | validated | |
| GARD | 9126 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRRX1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9142 | ENSG00000116132 | 167420 | 1q24.2 | paired related homeobox 1 | 21294718[PMID] |
| OTX2 | Modifying germline mutation in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 22577225[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 20849990[PMID]_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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0100596 | Absent nares | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0009914 | Cyclopia | |
| HP:0001360 | Holoprosencephaly | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0009939 | Mandibular aplasia | |
| HP:0000171 | Microglossia | |
| HP:0011386 | Narrow internal auditory canal | |
| HP:0000160 | Narrow mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002098 | Respiratory distress | |
| HP:0001696 | Situs inversus totalis | |
| HP:0100663 | Synotia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/990
- This record as JSON: /data/d/990.json