Acrofacial dysostosis, Rodríguez type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis, Rodríguez type | |
| fr | Dysostose acrofaciale type Rodríguez | |
| de | Dysostose, akrofaziale, Typ Rodriguez | |
| es | Disostosis acrofacial tipo Rodríguez | |
| it | Disostosi acrofacciale tipo Rodríguez | |
| nl | Acrofaciale dysostose, Rodríguez-type | |
| pt | Disostose acro-facial, tipo Rodriguez | |
| pl | Dyzostoza kończynowo-twarzowa, typ Rodrigueza | |
| cs | Akrofaciální dysostóza, Rodríguezův typ | |
| uk | Акрофаціальний дизостоз, тип Родрігеса | |
| zh | 肢端-面骨发育不全，RodrÝguez型 | |
| tr | Akrofasiyal disostoz, Rodriguez tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201170 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0008714 | E | validated | |
| MeSH | C538183 | E | validated | |
| UMLS | C1860119 | E | validated | |
| GARD | 496 | 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:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SF3B4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10771 | ENSG00000143368 | 605593 | 1q21.2 | splicing factor 3b subunit 4 | 27642715[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 18000904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18000904[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009380 | Finger aplasia | |
| HP:0000272 | Malar flattening | |
| HP:0000308 | Microretrognathia | |
| HP:0008551 | Microtia | |
| HP:0000426 | Prominent nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0002139 | Arrhinencephaly | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000912 | Sprengel anomaly | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0006101 | Finger syndactyly | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1788
- This record as JSON: /data/d/1788.json