ORPHA:861
Treacher-Collins syndrome
Synonyms: Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Treacher-Collins syndrome | Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies |
| fr | Syndrome de Treacher-Collins | Dysostose mandibulo-faciale sans anomalies des extrémités · Syndrome de Franceschetti-Klein |
| de | Treacher-Collins-Syndrom | Franceschetti-Klein-Syndrom · Mandibulofaziale Dysostose ohne Extremitätenanomalien |
| es | Síndrome de Treacher-Collins | |
| it | Sindrome di Treacher-Collins | Disostosi mandibolofacciale · Sindrome di Franceschetti-Klein |
| nl | Syndroom van Treacher-Collins | Mandibulofaciale dysostose zonder ledemaatanomalieën · Syndroom van Franceschetti-Klein |
| pt | Síndrome Treacher-Collins | Disostose mandibulofacial · Síndrome Franceschetti-Klein |
| pl | Zespół Treachera i Collinsa | Dyzostoza żuchwowo-twarzowa bez wad kończyn · Zespół Franceschetti i Kleina |
| cs | Treacher Collinsův syndrom | Franceschettiho syndrom · Franceschetti-Zwahlen-Klein syndrom · Franceschettiho-Kleinův syndrom · Mandibulofaciální dysostóza s anomáliemi končetin · Franceschetti-Kleinův syndrom |
| uk | Синдром Трічера-Коллінза | Синдром Франческетті-Клейна · Мандибулофаціальний дизостоз без аномалій кінцівок |
| zh | 下颌面骨发育不全 | 下颌面骨发育不全不伴肢体畸形 |
| tr | Treacher-Collins sendromu | Franceschetti-Klein sendromu · Ekstremite anomalileri olmayan mandibulofasiyal dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154500 | E | validated | |
| OMIM | 248390 | BTNT | validated | |
| OMIM | 613717 | BTNT | validated | |
| OMIM | 618939 | BTNT | validated | |
| ICD-10 | Q75.4 | NTBT | inclusion | validated |
| ICD-11 | LD2F.16 | NTBT | index | validated |
| MONDO | 0002457 | E | validated | |
| UMLS | C0242387 | E | validated | |
| GARD | 9124 | 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 (12):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:155899Mandibulofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:138050Pierre Robin syndrome associated with branchial archs anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases - ORPHA:98576Syndromic outer canthal malposition
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:20454 | ENSG00000125630 | 602000 | 2q14.1 | RNA polymerase I subunit B | 25790162[PMID] |
| POLR1C | Disease-causing germline mutation(s) in | Assessed | HGNC:20194 | ENSG00000171453 | 610060 | 6p21.1 | RNA polymerase I and III subunit C | 20301704[PMID] |
| POLR1D | Disease-causing germline mutation(s) in | Assessed | HGNC:20422 | ENSG00000186184 | 613715 | 13q12.2 | RNA polymerase I and III subunit D | 20301704[PMID] |
| TCOF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11654 | ENSG00000070814 | 606847 | 5q32-q33.1 | treacle ribosome biogenesis factor 1 | 20301704[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only | Validated | 22925539[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.9 / 100 000 | Japan | Value and class | Validated | 7424972[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only | Not yet validated | 7424972[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | 6024864[PMID]_14198411[PMID]_21131976[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 6024864[PMID]_14198411[PMID]_ [EXPERT] |
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
68 annotations · validated 2024-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0010807 | Open bite | |
| HP:0000278 | Retrognathia | |
| HP:0011219 | Short face | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000561 | Absent eyelashes | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000689 | Dental malocclusion | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002007 | Frontal bossing | |
| HP:0000612 | Iris coloboma | |
| HP:0000294 | Low anterior hairline | |
| HP:0008551 | Microtia | |
| HP:0011386 | Narrow internal auditory canal | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000486 | Strabismus | |
| HP:0009804 | Tooth agenesis | |
| HP:0000505 | Visual impairment | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0011481 | Abnormal lacrimal duct morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0002381 | Aphasia | |
| HP:0000643 | Blepharospasm | |
| HP:0000248 | Brachycephaly | |
| HP:0009795 | Branchial fistula | |
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000028 | Cryptorchidism | |
| HP:0002084 | Encephalocele | |
| HP:0002006 | Facial cleft | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000162 | Glossoptosis | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0000568 | Microphthalmia | |
| HP:0005701 | Multiple enchondromatosis | |
| HP:0000160 | Narrow mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0009554 | Preauricular hair displacement | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000046 | Small scrotum | |
| HP:0005990 | Thyroid hypoplasia | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0000154 | Wide mouth | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301704[PMID]_34573374[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/861
- This record as JSON: /data/d/861.json