ORPHA:434179
Orofaciodigital syndrome type 14
Synonyms: Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14 · Oral-facial-digital syndrome type 14
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare developmental disorder of the ciliopathy group characterized by oral, facial and digital malformations associated with microcephaly and cerebral malformations such as corpus callosum agenesis and vermis hypoplasia with molar tooth sign. Oral manifestations include gingival frenulae, lingual hamartomas, cleft/lobulated tongue and a cleft palate. Facial features can include telecanthus and an upslanting palpebral fissures. Digital malformations encompass hands postaxial polydactyly and duplication of the hallux.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 14 | Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14 · Oral-facial-digital syndrome type 14 |
| fr | Syndrome oro-facio-digital type 14 | OFD14 · Syndrome oro-facio-digital-microcéphalie-malformation cérébrale |
| de | Oro-fazio-digitales Syndrom Typ 14 | Mikrozephalie-zerebrale Fehlbildung-oro-fazio-digitales Syndrom · OFD14 |
| es | Síndrome orofaciodigital tipo 14 | OFD14 · Síndrome oro-facio-digital tipo 14 · Síndrome orofaciodigital-microcefalia-malformación cerebral |
| it | Sindrome orofaciodigitale, tipo 14 | OFD14 · Sindrome oro-facio-digitale, tipo 14 · Sindrome orofaciodigitale-malformazione cerebrale-microcefalia |
| nl | Orofaciodigitaal syndroom type 14 | Microcefalie - cerebrale malformatie - orofaciodigitaal syndroom · OFD14 · Oraal-faciaal-digitaal syndroom type 14 |
| pt | Síndrome oro-facio-digital tipo 14 | OFD14 |
| pl | Zespół ustno-twarzowo-palcowy typu 14 | OFD14 · Zespół ustno-twarzowo-palcowy z małogłowiem i malformacjami mózgu |
| cs | Orofaciodigitální syndrom, typ 14 | Mikrocefalie, malformace mozku a orofaciodigitální syndrom · OFD14 · Oro-facio-digitální syndrom, typ 14 |
| uk | Орофаціодигітальний синдром, тип 14 | Мікроцефалія - церебральна вада розвитку - орофаціодігітальний синдром · OFD14 · Орально-лицево-пальцевий синдром, тип 14 |
| zh | 口面指综合征14型 | 小头畸形-口面指综合征 |
| tr | Orofasiyodijital sendromu tip 14 | OFD14 · Oral-fasiyal-dijital sendromu tip 14 · Mikrosefali-serebral malformasyon-orofasiyodijital sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615948 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | attributed | validated |
| MONDO | 0014413 | E | validated | |
| UMLS | C4706604 | E | validated | |
| GARD | 13655 | 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: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 - ORPHA:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C2CD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24564 | ENSG00000168014 | 615944 | 11q13.4 | C2 domain containing 3 centriole elongation regulator | 24997988[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24997988[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24997988[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
42 annotations · validated 2019-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012447 | Abnormal myelination | |
| HP:0000191 | Accessory oral frenulum | |
| HP:0008753 | Aplasia of the epiglottis | |
| HP:0010297 | Bifid tongue | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0010055 | Broad hallux | |
| HP:0000414 | Bulbous nose | |
| HP:0000175 | Cleft palate | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0010051 | Deviation of the hallux | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0007082 | Dilated third ventricle | |
| HP:0010066 | Duplication of phalanx of hallux | |
| HP:0000039 | Epispadias | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0011802 | Hamartoma of tongue | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000180 | Lobulated tongue | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0100954 | Open operculum | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000480 | Retinal coloboma | |
| HP:0000470 | Short neck | |
| HP:0010535 | Sleep apnea | |
| HP:0000340 | Sloping forehead | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000506 | Telecanthus | |
| HP:0000243 | Trigonocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000465 | Webbed neck | |
Annotation source: 30097616[PMID]_24997988[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/434179
- This record as JSON: /data/d/434179.json