Wolf-Hirschhorn Syndrome [Wolfův-Hirschhornův syndrom]

topical
Terms

Pittův-Rogersův-Danksův syndrom
syndrom delece 4p

 

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

Persistent link   https://www.medvik.cz/link/D054877
Definition

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.

DUI
D054877 MeSH Browser
CUI
M0508574
Previous indexing
Abnormalities, Multiple (1970-2007); Chromosome Deletion (1978-2007)
History note
2008
Public note
2008

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 0
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 0
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 32
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 34
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 91
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.260 Chromosome Disorders 259
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 8
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 91
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 21
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.320 Genetic Diseases, Inborn 1 213
C16.320.180 Chromosome Disorders 259
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 8
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 91
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 21
C16.320.180.985 Wolf-Hirschhorn Syndrome

Add