ORPHA:3027
Caudal regression syndrome
Synonyms: Caudal dysgenesis syndrome · Caudal dysplasia · Caudal regression sequence
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caudal regression syndrome | Caudal dysgenesis syndrome · Caudal dysplasia · Caudal regression sequence |
| fr | Syndrome de régression caudale | Dysplasie caudale · Syndrome de dysgénésie caudale · Séquence de régression caudale |
| de | Kaudales Regressionssyndrom | Dysplasie, kaudale · Kaudale Regressionssequenz |
| es | Síndrome de regresión caudal | Displasia caudal · Secuencia de regresión caudal · Síndrome de disgenesia caudal |
| it | Sindrome da regressione caudale | Displasia caudale · Sequenza da regressione caudale · Sindrome da disgenesia caudale |
| nl | Caudale regressie-syndroom | Caudale dysgenesie-syndroom · Caudale dysplasie · Caudale regressie-sequentie |
| pt | Síndrome de regressão caudal | Displasia caudal · Síndrome de disgenésia caudal |
| pl | Sekwencja regresji kaudalnej | Dysplazja kaudalna · Zespół agnezji krzyżowej · Zespół regresji krzyżowej · Zespół regresji kaudalnej |
| cs | Syndrom kaudální regrese | Kaudální dysplázie · Syndrom sakrální ageneze |
| uk | Синдром каудальної регресії | Синдром каудального дисгенезу · Каудальна дисплазія · Послідовність каудальної регресії |
| zh | 尾部退化综合征 | 骶骨退化综合征 |
| tr | Kaudal regresyon dizisi | Kaudal displazi · Sakral agenezi sendromu · Sakral regresyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600145 | NTBT | validated | |
| ICD-10 | Q76.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0017607 | E | validated | |
| UMLS | C0300948 | E | validated | |
| GARD | 6007 | E | validated | |
| MedDRA | 10059387 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:444941Caudal regression-sirenomelia spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare transplant-related disorders - ORPHA:645202Closed spinal dysraphism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1773Sacrococcygeal dysgenesis association moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FUZ | Disease-causing germline mutation(s) in | Assessed | HGNC:26219 | ENSG00000010361 | 610622 | 19q13.33 | fuzzy planar cell polarity protein | 21840926[PMID] |
| VANGL1 | Major susceptibility factor in | Assessed | HGNC:15512 | ENSG00000173218 | 610132 | 1p13.1 | VANGL planar cell polarity protein 1 | 17409324[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.75 / 100 000 | Australia | Value and class | Validated | 20734338[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.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0011867 | Abnormality of the wing of the ilium | |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
| HP:0002607 | Bowel incontinence | |
| HP:0003199 | Decreased muscle mass | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0100710 | Impulsivity | |
| HP:0009800 | Maternal diabetes | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002023 | Anal atresia | |
| HP:0000086 | Ectopic kidney | |
| HP:0001387 | Joint stiffness | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000104 | Renal agenesis | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000073 | Ureteral duplication | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0002139 | Arrhinencephaly | |
| HP:0002308 | Chiari malformation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000822 | Hypertension | |
| HP:0000921 | Missing ribs | |
| HP:0000202 | Orofacial cleft | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3027
- This record as JSON: /data/d/3027.json