ORPHA:2753
Orofaciodigital syndrome type 4
Synonyms: Baraitser-Burn syndrome · Mohr-Majewski syndrome · OFD4 · Oral-facial-digital syndrome type 4
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 4 | Baraitser-Burn syndrome · Mohr-Majewski syndrome · OFD4 · Oral-facial-digital syndrome type 4 |
| fr | Syndrome oro-facio-digital type 4 | OFD4 · Syndrome de Baraitser-Burn · Syndrome de Mohr-Majewski |
| de | Oro-fazio-digitales Syndrom Typ 4 | Baraitser-Burn-Syndrom · Mohr-Majewski-Syndrom · OFD4 |
| es | Síndrome orofaciodigital tipo 4 | OFD4 · Síndrome de Baraitser-Burn · Síndrome de Mohr-Majewski · Síndrome oro-facio-digital tipo 4 |
| it | Sindrome orofaciodigitale, tipo 4 | OFD4 · Sindrome di Baraitser-Burn · Sindrome di Mohr-Majewski · Sindrome oro-facio-digitale, tipo 4 |
| nl | Orofaciodigitaal syndroom type 4 | OFD4 · Oraal-faciaal-digitaal syndroom type 4 · Syndroom van Baraitser-Burn · Syndroom van Mohr-Majewski |
| pt | Síndrome oro-facio-digital tipo 4 | OFD4 |
| pl | Zespół ustno-twarzowo-palcowy typu 4 | Zespół ustno-twarzowo-palcowy typu 4 · OFD4 · Zespół Baraitsera i Burna |
| cs | Orofaciodigitální syndrom, typ 4 | OFD4 · Baraitserův-Burnův syndrom · Mohrův-Majewského syndrom · Baraitser-Burnův syndrom · Mohr-Majewského syndrom |
| uk | Орофаціодигітальний синдром, тип 4 | Синдром Барайзера-Берна · Синдром Мор-Маєвського · OFD4 · Орально-лицево-пальцевий синдром, тип 4 |
| zh | 口面指综合征4型 | Baraitser-Burn综合征 |
| tr | Orofasiyodijital sendrom tip 4 | OFD4 · Mohr-Majewski sendromu · Baraitser-Burn sendromu · Oral-fasiyal-dijital sendromu tip 4 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258860 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0009794 | E | validated | |
| MeSH | C537133 | E | validated | |
| UMLS | C0406727 | E | validated | |
| GARD | 816 | 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 (6):
- ORPHA:93426Ciliopathies with major skeletal 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 - ORPHA:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCTN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24519 | ENSG00000119977 | 613847 | 10q24.1 | tectonic family member 3 | 22883145[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
69 annotations · validated 2017-07-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0010469 | Absent testis | |
| HP:0009118 | Aplasia/Hypoplasia of the mandible | |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0000453 | Choanal atresia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0008734 | Decreased testicular size | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0006101 | Finger syndactyly | |
| HP:0002970 | Genu varum | |
| HP:0001263 | Global developmental delay | |
| HP:0010566 | Hamartoma | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001373 | Joint dislocation | |
| HP:0001601 | Laryngomalacia | |
| HP:0000369 | Low-set ears | |
| HP:0000161 | Median cleft lip | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0011267 | Microtia, third degree | |
| HP:0030868 | Monorchism | |
| HP:0001562 | Oligohydramnios | |
| HP:0010285 | Oral synechia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0003196 | Short nose | |
| HP:0001328 | Specific learning disability | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0000175 | Cleft palate | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0002705 | High, narrow palate | |
| HP:0000520 | Proptosis | |
| HP:0001171 | Split hand | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0000176 | Submucous cleft hard palate | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000598 | Abnormality of the ear | |
| HP:0011255 | Absent crus of helix | |
| HP:0002023 | Anal atresia | |
| HP:0005944 | Bilateral lung agenesis | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0004871 | Perineal fistula | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0025023 | Rectal atresia | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000322 | Short philtrum | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2753
- This record as JSON: /data/d/2753.json