Ruvalcaba syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ruvalcaba syndrome | |
| fr | Syndrome de Ruvalcaba | |
| de | Ruvalcaba-Syndrom | Hunter-Mcalpine-Syndrom |
| es | Síndrome de Ruvalcaba | |
| it | Sindrome di Ruvalcaba | |
| nl | Syndroom van Ruvalcaba | |
| pt | Síndrome Ruvalcaba | |
| pl | Zespół Ruvalcaba | |
| cs | Ruvalcabaův syndrom | |
| uk | Синдром Рувалькаби | |
| zh | Ruvalcaba综合征 | |
| tr | Ruvalcaba sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180870 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008395 | E | validated | |
| MeSH | C579395 | E | validated | |
| UMLS | C0265248 | E | validated | |
| GARD | 4748 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000678 | Dental crowding | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0000160 | Narrow mouth | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000508 | Ptosis | |
| HP:0010049 | Short metacarpal | |
| HP:0003196 | Short nose | |
| HP:0200055 | Small hand | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0009811 | Abnormality of the elbow | |
| HP:0100734 | Abnormality of vertebral epiphysis morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0000348 | High forehead | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000774 | Narrow chest | |
| HP:0000768 | Pectus carinatum | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000823 | Delayed puberty | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000790 | Hematuria | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000023 | Inguinal hernia | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3121
- This record as JSON: /data/d/3121.json