Wolf hirschhorn syndrome. Medical search. Frequent questions

Down syndrome is a genetic disorder caused by trisomy of all or part of chromosome 21. (logicalimages.com)
Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q. (uni-luebeck.de)
This was discovered after the naming of Down syndrome as trisomy 21, reflecting how this disease results from possessing one extra chromosome 21 (three total). (uniontestprep.com)

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. (medscape.com)

Online Mendelian Inheritance in Man (OMIM): Wolf-Hirschhorn syndrome - 194190 Rapini RP, Bolognia JL, Jorizzo JL (2007). (wikipedia.org)

A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. (medlineplus.gov)
This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. (nih.gov)

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). (medscape.com)
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. (medscape.com)
Karen S. Ho, PhD began working on genotype-phenotype studies of Wolf-Hirschhorn syndrome with Drs. John Carey, Agatino Battaglia, and Amy Calhoun in 2012. (liv4thecure.org)

Wolf-Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. (wikipedia.org)
Chromosomal microarray and Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3-specific probe (Wolf-Hirschhorn region, Vysis, Inc) is available for FISH study. (wikipedia.org)
Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. (medscape.com)
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). (nih.gov)
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). (embl.de)

Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. (medlineplus.gov)
Previously reported cases of Wolf-Hirschhorn syndrome have involved the deletion of D4S10. (bmj.com)

Wolf-Hirschhorn syndrome was first described in 1961 by the Austrian-born American pediatrician Kurt Hirschhorn and his colleagues. (wikipedia.org)
Cooper and Hirschhorn first documented WHS in 1961. (medscape.com)

The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. (medlineplus.gov)
Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome. (medlineplus.gov)
Wolf-Hirschhorn syndrome (WHS) is a disorder caused by irregularities on the short arm of chromosome 4 (4p). (medscape.com)
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). (jefferson.edu)
Wolf-Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. (ox.ac.uk)
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. (bmj.com)
We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. (bmj.com)

The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is associated with craniofacial features and growth delay, and Homo Sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), which is associated with seizures. (wikipedia.org)
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. (ox.ac.uk)
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. (bvsalud.org)

Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. (medscape.com)
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (embl.de)

Thereafter, the syndrome gained worldwide attention after publications by the German geneticist Ulrich Wolf and his co-workers, specifically their articles in the German scientific magazine Humangenetik. (wikipedia.org)
In 1965, back-to-back publications in Humangenetik by Hirschhorn et al and Wolf et al brought the disease to the attention of geneticists and other medical professionals. (medscape.com)

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. (nih.gov)
and Jacobsen syndrome , also called the terminal 11q deletion disorder. (wikipedia.org)
Dorman was born with the rare genetic disorder Wolf-Hirschhorn syndrome, and the effects include delayed growth and development, intellectual disability, low muscle tone and seizures. (ktsm.com)
Cally's 18-year-old daughter Amelie was diagnosed with rare chromosonal disorder Smith-Magenis Syndrome (SMS) at age three. (acast.com)

Diseases associated with NSD3 include Wolf-Hirschhorn Syndrome and Nut Midline Carcinoma. (antibodiesinc.com)

The diagnosis of Wolf-Hirschhorn syndrome may be suspected by chromosomal testing before birth or by the child's physical characteristics after birth. (msdmanuals.com)

Researchers believe that the loss of the NSD2 gene can cause many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. (medlineplus.gov)
A girl with Wolf-Hirschhorn syndrome showing characteristic features of the condition. (medscape.com)
Wolf-Hirschhorn syndrome - Characteristic facial appearance includes flat nasal bridge and high forehead referred to as "Greek warrior helmet" appearance. (logicalimages.com)
Cri-du-chat syndrome (5p minus [5p-] syndrome) - Infants often have a characteristic "catlike" cry. (logicalimages.com)

The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. (medlineplus.gov)
Wolf-Hirschhorn affects one in 50,000 babies. (westernnebraskaobserver.net)
Anna has Wolf-Hirschhorn Syndrome, a rather rare genetic condition, affecting one in 50,000. (synonyms.com)

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). (bvsalud.org)

Chris is a divorced dad of three kids one of whom, Luca, has Wolf Hirschhorn Syndrome, a rare congenital disease. (21stcenturydads.org)
Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. (koreamed.org)
Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. (open.ac.uk)

Physical examination helps in the diagnosis of specific epileptic syndromes that cause abnormal findings, such as dermatologic abnormalities (eg, patients with intractable generalized tonic-clonic seizures for years are likely to have injuries requiring stitches). (medscape.com)
Video-EEG monitoring is the standard test for classifying the type of seizure or syndrome or to diagnose pseudoseizures (ie, to establish a definitive diagnosis of spells with impairment of consciousness). (medscape.com)
Selection of an anticonvulsant medication depends on an accurate diagnosis of the epileptic syndrome. (medscape.com)

ARHGAP31 -, DLL4-, NOTCH1-, and RBPJ- related Adams-Oliver syndrome (AOS) are inherited in an autosomal dominant manner. (nih.gov)
Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)

This technique is also used to characterize the type of seizure and epileptic syndrome to optimize pharmacologic treatment and for presurgical workup. (medscape.com)

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. (medscape.com)

Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract. (medlineplus.gov)

Rutherford EL, Lowery LA. Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. (medscape.com)
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. (medscape.com)

Rayah was born with a rare chromosomal deficiency known as Wolf-Hirschhorn syndrome. (westernnebraskaobserver.net)

Angelman syndrome - Clinical clues may include severe language impairment, happy demeanor, hand-flapping, and ataxia. (logicalimages.com)

Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. (medscape.com)
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). (nih.gov)

She has published papers on a candidate seizure gene in the 4p region as well as on potential treatments for Wolf-Hirschhorn related seizures. (liv4thecure.org)

Treatment of Wolf-Hirschhorn syndrome is supportive. (msdmanuals.com)

Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. (medscape.com)

LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (medscape.com)

Dylan was born with the rare genetic condition Wolf Hirschhorn Syndrome. (newlifecharity.co.uk)

For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. (medlineplus.gov)

When Do Symptoms of Wolf-Hirschhorn syndrome Begin? (nih.gov)
Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms. (medlineplus.gov)

Rett syndrome - This is almost exclusively seen in females and characterized by postnatal microcephaly and regression of language and purposeful hand movements in early childhood. (logicalimages.com)

14. Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. (nih.gov)

Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. (medlineplus.gov)

Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. (medlineplus.gov)
Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch JR. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. (medscape.com)

A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. (nih.gov)

Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. (medscape.com)

People with Wolf-Hirschhorn syndrome experience delayed growth and development. (medlineplus.gov)
Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). (medscape.com)
Download the Wolf-Hirschhorn Syndrome Growth Chart here. (wolfhirschhorn.org)

A child with Wolf-Hirschhorn syndrome. (medscape.com)

Organisms3

Diseases6

Geographicals1

Trisomy3

Microdeletion syndromes1

OMIM1

Pitt-Rogers-Danks2

Genotype-phenotype3

4p16.35

Cases of Wolf-Hirschho2

19612

Short arm of chromosome7

Genes3

WHSC12

Humangenetik2

Disorder4

Diseases1

Suspected by chromosomal1

Characteristic4

50,0003

WHSCRs1

Congenital3

Diagnosis3

Autosomal2

Workup1

Prevalence1

Abnormalities1

Developmental2

Deficiency1

Angelman1

Defects2

Seizures1

Supportive1

Epilepsy1

Protein1

Rare1

Males1

Symptoms2

Females1

Candidate1

Affects1

Mild2

Spectrum1

Features1

Growth3

Child1