loading...| Preferred Name |
Wolf-Hirschhorn Syndrome |
| Synonyms |
Syndrome, Pitt-Rogers-Danks |
| Definitions |
A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. |
| ID |
http://purl.bioontology.org/ontology/MESH/D054877 |
| altLabel |
Syndrome, Pitt-Rogers-Danks 4p Deletion Syndrome Syndrome, Wolf-Hirschhorn Del(4p) Syndrome Pitt Syndrome Chromosome 4p Deletion Syndrome Pitt Syndromes Pitt-Rogers-Danks Syndrome 4p- Syndrome Syndrome, Chromosome 4p Syndrome, Wolf Syndromes, Chromosome 4p 4p Syndromes, Chromosome Wolf Syndrome 4p Syndrome, Chromosome Chromosome 4p Monosomy Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation Chromosome 4p Syndromes Wolf Hirchhorn Syndrome Chromosome 4p Syndrome Syndrome, Pitt Syndrome, Wolf-Hirchhorn Pitt Rogers Danks Syndrome Wolf-Hirchhorn Syndrome Partial Monosomy 4p Wolf Hirschhorn Syndrome Syndromes, Pitt |
| 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 |
| cui |
C1956097 C0796117 |
| DC |
1 |
| definition |
A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS. |
| DX |
20080101 |
| HN |
2008 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2008 |
| MDA |
20070709 |
| MMR |
20130708 |
| MN |
C16.320.180.985 C16.131.077.944 C16.131.260.985 |
| notation |
D054877 |
| prefLabel |
Wolf-Hirschhorn Syndrome |
| TERMUI |
T695185 T695184 T842706 T708880 T812504 T839376 T842708 T842709 T842710 T842707 T839375 T812503 T842711 |
| TH |
NLM (2008) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |