Wolff-Hirschhorn syndrome is a syndrome caused by a genetic disease . First described in 1965.
| Wolf-Hirschhorn Syndrome | |
|---|---|
 4-year-old girl with Wolf-Hirschhorn syndrome | |
| ICD-10 | Q 93.3 |
| ICD-10-KM | |
| ICD-9 | 758.3 |
| Omim | 194190 |
| Diseasesdb | 32279 |
| eMedicine | ped / 2446 |
| Mesh | |
Content
- 1 Pathophysiology
- 2 Diagnostics
- 3 Epidemiology
- 4 References
Pathophysiology
In 80% of newborns suffering from it, the cytological basis of this syndrome is a deletion of the short arm of the 4th chromosome . Deletion sizes range from small terminal to occupying about half of the distal part of the short arm. It is noted that most deletions occur βde novoβ - 90%, about 10% occur as a result of translocations in parents (1: 2 - male: female). Less often in the genome of patients, in addition to translocation, there are also ring chromosomes. Along with deletion of chromosomes, pathology in newborns can be due to inversions, duplications, isochromosomes.
Diagnostics
The disease is characterized by a delay in physiological, mental and psychomotor development. Severe heart and kidney defects can also occur in most cases. Newborns have a small weight with a normal duration of pregnancy (up to 2 kg). Among the external signs can be noted: Moderately expressed microcephaly , hypertelorism , coracoid nose, protruding epigastric, abnormal shape of the auricles, often with preauricular folds, hypospadias , muscle hypotension , a significant decrease in the reaction to external irritation, epilepsy occurs in 90% of patients and often disappears itself closer to 10 years and earlier. Virtually all have mitochondrial dysfunction in which valproeno-containing preparations for the treatment of epilepsy are contraindicated. Patients have very weak immunity, even bronchitis can be fatal. Frequent cleft of the upper lip and palate, deformities of the feet and hands, anomalies of the eyeballs, epicantum and small mouth with lowered corners. The auricles are usually protruded and large (mainly due to an increase in the scaphoid and triangular fossa), the anti-tragus is hypoplastic, the lobe is not pronounced. In front of the auricle there are often vertical folds of skin. The feet in some cases are sharply deformed. Clubfoot, flat-valgus foot, reduced foot and other deformities are described. Often there are hemangiomas of the skin, usually flat, small in size, localized in the face.
Epidemiology
The frequency of this syndrome is low - 1: 50,000 births. The average life expectancy is up to about 30 years (the maximum life expectancy of 25 years is recorded in Russia), with severe heart and kidney defects, life expectancy can be no more than one year.