Syndrome of Wolf-Hirschhorn

The syndrome of Wolf-Hirschhorn is a chromosomal Maladie associating:

characteristic facies,
intra-uterine delay of growth followed by a postnatal delay of growth,
muscular Hypotonia,
delay of development with a delay mental.

The majority of these children will not go and will not speak.

Other names of the disease

Syndrome 4p
Délétion 4p
Monosomie 4p
Syndrome of Pitt-Rogers-Danks

Etiology

Délétion of the distal portion of the arm court of the Chromosome 4 implying the band 4p16 (critical area WHCR)
75% of the monosomies 4p is délétions of novo (paternal chromosome generally)
family Translocation is found at 5 to 13% of the patients.
In some cases, in addition to the délétion 4p, there exist more complicated chromosomal anomalies.

Prevalence

1 on 50 000 births. Reached 2 girls for a boy.

Description

Hypotonia with frequent epileptic fits. The majority of the children do not go and do not speak. The acquisition of cleanliness is very late.
Difficulté of food
Retard of growth will intra uterine
characteristic Faciès

Microcéphalie
Hypertélorisme,
Glabelle prominent
Nez broad and/or broken
short Philtrum
Micrognatie
falling Coins of the mouth
dysplasic Oreilles
Appendice préauriculaire

palatine Division and dental anomaly
Cardiopathies congenital
Surdité
renal Manifestations
genital Anomalies
cerebral Malformations
stereotyped Mouvements

Diagnosis

The standard chromosomic chart diagnoses approximately 60 to 70% of the délétions. In situ hybridization by fluorescence detects the majority of the délétions of area WHCR

Differential diagnosis

Délétion of the area proximale of the arm court of the 4
other syndromes to be eliminated:

Syndrome of Seckel
Syndrome CHARGES
Syndrome with Smith-Lemli-Opitz
Syndrome of Williams
Syndrome of Rett
Syndrome of Angelman
Syndrome of Smith-Magenis
Syndrome of Malpuech
Syndrome of Lowry-Maclean

The genetic Council

The chromosomal analysis of the parents will seek a Translocation interesting the critical area. The genetic council will depend on the result of the chromosomic chart of the parents.
The prenatal diagnosis is possible in the event of chromosomal rearrangement of one of the parents.

Sources

Site in French of information on the orphan rare diseases and drugs
Site in English Impossible to circumvent for the genetic diseases
Agatino Battaglia, John C Carey, Tracy J Wright, Wolf-Hirschhorn Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

Zh-classical: 第四染色體缺失症候群

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