Holoprosencephaly-caudal dysgenesis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holoprosencephaly-caudal dysgenesis syndrome | |
| fr | Syndrome d'holoprosencéphalie-dysgénésie caudale | |
| de | Holoprosenzephalie - kaudale Dysgenesie | |
| es | Síndrome de holoprosencefalia-disgenesia caudal | |
| it | Sindrome da oloprosencefalia e disgenesia caudale | |
| nl | Holoprosencefalie - caudale dysgenesie-syndroom | |
| pt | Síndrome de holoprosencefalia-disgenesia caudal | |
| pl | Zespół holoprozencefalii i dysgenezji ogonowej | |
| cs | Syndrom zahrnující holoprosencefalii a kaudální dysgenezi | |
| uk | Синдром голопрозенцефалічного каудального дисгенезу | |
| zh | 前脑无裂畸形-尾椎发育不全综合征 | |
| tr | Holoprosensefali-kaudal disgenezi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| MONDO | 0016299 | E | validated | |
| UMLS | C4749731 | 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | Spain | Value and class | Validated | 7802035[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Spain | 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0010662 | Abnormality of the diencephalon | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000175 | Cleft palate | |
| HP:0009914 | Cyclopia | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000161 | Median cleft lip | |
| HP:0001622 | Premature birth | |
| HP:0000520 | Proptosis | |
| HP:0004059 | Radial club hand | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2165
- This record as JSON: /data/d/2165.json