loading...| Preferred Name |
Treacher-Collins syndrome |
|
| Synonyms |
Mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome |
|
| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_861 |
|
| alternative_term |
Mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=861 |
|
| has_age_of_onset |
Neonatal |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
OMIM:154500 OMIM:248390 OMIM:613717 ICD-10:Q75.4 ICD-11:LD2F.16 OMIM:618939 |
|
| label |
Treacher-Collins syndrome |
|
| notation |
ORPHA:861 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98566 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_98576 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_98578 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_98683 |
|
| prefixIRI |
ORDO:Orphanet_861 |
|
| prefLabel |
Treacher-Collins syndrome |
|
| present_in |
Japan AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98566 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_98576 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_98578 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_98683 |
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| subClassOf |