DeCS

Descritor em português:

Síndrome de Wolf-Hirschhorn

Descritor em inglês:

Wolf-Hirschhorn Syndrome

Descritor em espanhol:

Síndrome de Wolf-Hirschhorn

Espanhol da Espanha

Descritor

síndrome de Wolf-Hirschhorn

Nota de escopo:

Síndrome causado por grandes supresiones de la extremidad telomérica del brazo corto del CROMOSOMA 4 (4p) en las regiones críticas del síndrome de Wolf-Hirschhorn (WHSCRs). Se han identificado varios genes candidatos, incluidos el WHSC1 y WHSC2 que parecen ser responsables de fenotipo central, y en combinación con otros genes ligados y no ligados determinan la gravedad e inclusión de los fenotipos más infrecuentes. La mayoría de los casos tienen un defecto craneofacial característico al que con frecuencia se denomina "cara de cascogriego" - resultado combinado de MICROCEFALIA, frente amplia, glabela prominente, HIPERTELORISMO, cejas enarcadas, filtrum corto y microganatia. Además, hay retraso mental, retrasos en el crecimiento, EPILEPSIA, y frecuentemente una amplia gama de defectos en la línea media y esqueléticos, que incluyen HISPOSPADIAS, DEFECTOS CARDIACOS CONGÉNITOS, LABIO LEPORINO, PALADAR HENDIDO, colobomas, DEFORMIDADES EN LOS PIES, clinodactilia, ESCOLIOSIS y CIFOSIS.

Descritor em francês:

Syndrome de Wolf-Hirschhorn

Termo(s) alternativo(s):

4p Deletion Syndrome
4p Syndrome, Chromosome
4p Syndromes, Chromosome
4p- Syndrome
Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy
Chromosome 4p Syndrome
Chromosome 4p Syndromes
Del(4p) Syndrome
Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation
Partial Monosomy 4p
Pitt Rogers Danks Syndrome
Pitt Syndrome
Pitt Syndromes
Pitt-Rogers-Danks Syndrome
Syndrome, Chromosome 4p
Syndrome, Pitt
Syndrome, Pitt-Rogers-Danks
Syndrome, Wolf
Syndrome, Wolf-Hirchhorn
Syndrome, Wolf-Hirschhorn
Syndromes, Chromosome 4p
Syndromes, Pitt
Wolf Hirchhorn Syndrome
Wolf Hirschhorn Syndrome
Wolf Syndrome
Wolf-Hirchhorn Syndrome

Código(s) hierárquico(s):

C16.131.077.944
C16.131.260.985
C16.320.180.985

Identificador Único RDF:

https://id.nlm.nih.gov/mesh/D054877

Nota de escopo:

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.

Qualificadores permitidos:

BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology

Identificador do conceito	M0508574
Nota de escopo	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.
Termo preferido	Wolf-Hirschhorn Syndrome
Termo(s) alternativo(s)	4p Deletion Syndrome 4p Syndrome, Chromosome 4p Syndromes, Chromosome 4p- Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Chromosome 4p Syndrome Chromosome 4p Syndromes Del(4p) Syndrome Partial Monosomy 4p Syndrome, Chromosome 4p Syndrome, Wolf Syndrome, Wolf-Hirchhorn Syndrome, Wolf-Hirschhorn Syndromes, Chromosome 4p Wolf Hirchhorn Syndrome Wolf Hirschhorn Syndrome Wolf Syndrome Wolf-Hirchhorn Syndrome

Identificador do conceito	M0508575
Nota de escopo	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.
Termo preferido	Pitt-Rogers-Danks Syndrome
Termo(s) alternativo(s)	Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation Pitt Rogers Danks Syndrome Pitt Syndrome Pitt Syndromes Syndrome, Pitt Syndrome, Pitt-Rogers-Danks Syndromes, Pitt

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