ORPHA:363705
Craniofaciofrontodigital syndrome
Synonyms: Cantu craniofaciofrontodigital syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofaciofrontodigital syndrome | Cantu craniofaciofrontodigital syndrome |
| fr | Syndrome cranio-facio-fronto-digital | Syndrome cranio-facio-fronto-digital de Cantu |
| de | Kranio-fazio-fronto-digitales Syndrom | Kranio-fazio-fronto-digitales Syndrom Cantu |
| es | Síndrome craneofaciofrontodigital | Síndrome craneofaciofrontodigital de Cantu · Síndrome cráneo-facio-fronto digital de Cantu |
| it | Sindrome cranio-facio-fronto-digitale | Sindrome cranio-facio-fronto-digitale di Cantu · Sindrome craniofaciofrontodigitale di Cantu |
| nl | Craniofaciofrontodigitaal syndroom | Craniofaciofrontodigitaal syndroom van Cantu |
| pt | Síndrome craniofaciofrontodigital | |
| pl | Zespół czaszkowo-twarzowo-czołowo-palcowy | Zespół czaszkowo-twarzowo-czołowo-palcowy Cantu |
| cs | Kraniofaciofrontodigitální syndrom | Cantuův kraniofaciofrontodigitální syndrom |
| uk | Краніофаціофронтодігітальний синдром | Краніофаціально-фронтодигітальний синдром Канту |
| zh | 颅-面-额-肢端综合征 | Cantu颅-面-额-肢端综合征 |
| tr | Kraniyofasiyofrontodijital sendromu | Cantu kraniyofasiyofrontodijital sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114620 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0007259 | E | validated | |
| MeSH | C567298 | E | validated | |
| UMLS | C2676032 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 7151302[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7151302[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.
6
HPO phenotypes
69 annotations · validated 2021-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0004540 | Congenital, generalized hypertrichosis | |
| HP:0000998 | Hypertrichosis | |
| HP:0100874 | Thick hair | |
| Frequent (79-30%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0000973 | Cutis laxa | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002094 | Dyspnea | |
| HP:0000969 | Edema | |
| HP:0003546 | Exercise intolerance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0002076 | Migraine | |
| HP:0007517 | Palmoplantar cutis laxa | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001698 | Pericardial effusion | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0001015 | Prominent superficial veins | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0005314 | Anomalous branches of internal carotid artery | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0011675 | Arrhythmia | |
| HP:0001635 | Congestive heart failure | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0000286 | Epicanthus | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001269 | Hemiparesis | |
| HP:0100790 | Hernia | |
| HP:0000316 | Hypertelorism | |
| HP:0001520 | Large for gestational age | |
| HP:0000294 | Low anterior hairline | |
| HP:0012568 | Lower eyelid edema | |
| HP:0000158 | Macroglossia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000768 | Pectus carinatum | |
| HP:0011726 | Persistent fetal circulation | |
| HP:0011220 | Prominent forehead | |
| HP:0002708 | Prominent median palatal raphe | |
| HP:0000520 | Proptosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0004532 | Sacral hypertrichosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001328 | Specific learning disability | |
| HP:0001297 | Stroke | |
| HP:0012471 | Thick vermilion border | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001176 | Large hands | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31828977[PMID]_71513002[PMID]_34453476[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363705
- This record as JSON: /data/d/363705.json