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Mandibulofacial Dysostosis (CUI C0242387) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0242387

NCI Thesaurus Code: C75018  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.

GARD Definition: Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When it is due to the TCOF1 or POLR1D gene, it is inherited in an autosomal dominant manner. About 60% of these cases are due to a new mutation in the gene and are not inherited from a parent. When it is due to the POLR1C gene, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown. - this information is from GARD/ORDR/NCATS.

HPO Definition: A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. [HPO:probinson]

MSH Definition: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

Synonyms & Abbreviations: (see Synonym Details)
Collins Syndrome, Treacher
Complete mandibulofacial dysostosis
Dysostoses, Mandibulofacial
Dysostosis, Mandibulofacial
Franceschetti syndrome
Franceschetti's syndrome
Franceschetti-Klein syndrome (disorder)
Franceschetti-Klein syndrome
Franceschetti-Zwahlen-Klein Syndrome
Mandibulofacial Dysostoses
Mandibulofacial Dysostosis (MFD1)
Mandibulofacial Dysostosis [Disease/Finding]
Mandibulofacial dysostosis without limb anomalies
Mandibulofacial dysostosis
MFD1
Syndrome, Treacher Collins
TCOF
TCS1
TCS
Treacher Collins syndrome (disorder)
TREACHER COLLINS SYNDROME 1
Treacher Collins syndrome
Treacher Collins-Franceschetti syndrome
Treacher-Collins syndrome
Treacher-Collins' syndrome

External Source Codes: 
NCI Thesaurus Code C75018 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE2ud SNOMEDCT_US
CTV3ID XUHpj SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 34294 GARD
DISEASE_IDENTIFIER_ID 34295 GARD
DISEASE_IDENTIFIER_ID 34296 GARD
DISEASE_IDENTIFIER_ID 3502 GARD
DISEASE_IDENTIFIER_ID 3503 GARD
DISEASE_IDENTIFIER_ID 3504 GARD
DISEASE_IDENTIFIER_ID 3505 GARD
DISEASE_IDENTIFIER_ID 3506 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,5,q,3,2,-,q,3,3,.,1, OMIM
GENESYMBOL MFD1 OMIM
GENESYMBOL TCOF1 OMIM
GENESYMBOL TCS1 OMIM
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Syndrome: Franceschetti ICD10
INCLUSION_TERM Syndrome: Treacher-Collins ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2009-02-01T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) NDFRT
MESH_DUI D008342 NDFRT
MESH_NAME Mandibulofacial Dysostosis NDFRT
MESH_UI M0012984 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.116.099.370.231.576 MSH
MN C05.660.207.231.576 MSH
MN C16.131.621.207.231.576 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Treacher Collins Syndrome NCI
NUI N0000001939 NDFRT
ORDER_NO 28001 ICD10CM
PRIMARY_PATH 10051456$10028380$10028396$10010331$Mandibulofacial dysostosis$Musculoskeletal and connective tissue disorders of face, neck and jaw congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9124/treacher-collins-syndrome/resources/1 GARD
REF orcid.org/0000-0001-5889-4463 HPO
RXAUI 3196518 RXNORM
RXAUI 3196519 RXNORM
RXAUI 3250438 RXNORM
RXAUI 5040024 RXNORM
RXAUI 5930966 RXNORM
RXAUI 5931586 RXNORM
RXCUI 1025796 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 82203000 NDFRT
SNOMEDID D4-00722 SNOMEDCT_US
SNOMEDID D4-00723 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q75.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q75.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q75.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q75.4 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE2ud SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUHpj SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00722 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00723 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T024848 MSH
TERMUI T024849 MSH
TERMUI T812145 MSH
TERMUI T842599 MSH
TERMUI T844088 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0242387

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