RAPADILINO syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies characterized by distinctive signs and facial associated features from which the acronym RAPADILINO is made: RA for radial ray defect, PA for patellae hypoplasia/aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RAPADILINO syndrome | |
| fr | Syndrome RAPADILINO | |
| de | RAPADILINO-Syndrom | |
| es | Síndrome RAPADILINO | |
| it | Sindrome RAPADILINO | |
| nl | RAPADILINO-syndroom | |
| pt | Síndrome RAPADILINO | |
| pl | Zespół RAPADILINO | |
| cs | RAPADILINO syndrom | |
| uk | Синдром RAPADILINO | |
| zh | RAPADILINO综合征 | |
| tr | RAPADILINO sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266280 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009955 | E | validated | |
| MeSH | C535288 | E | validated | |
| UMLS | C1849453 | E | validated | |
| GARD | 4637 | E | validated | |
| MedDRA | 10088963 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RECQL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9949 | ENSG00000160957 | 603780 | 8q24.3 | RecQ like helicase 4 | 12952869[PMID]_18716613[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 18716613[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18716613[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
15 annotations · validated 2025-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0040064 | Abnormality of limbs | |
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000175 | Cleft palate | |
| HP:0002014 | Diarrhea | |
| HP:0011968 | Feeding difficulties | |
| HP:0000218 | High palate | |
| HP:0000417 | Slender nose | |
| Occasional (29-5%) | ||
| HP:0004313 | Decreased circulating antibody level | |
| HP:0005403 | Decreased total T cell count | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001029 | Poikiloderma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26064716[PMID]_33477564[PMID]_18716613[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3021
- This record as JSON: /data/d/3021.json