Cri du chat

The cat cry syndrome or Cri -du -chat syndrome was first described in 1963 by the French geneticist and pediatrician Jérôme Lejeune from a scientific viewpoint. He named it after the cat-like cries (French: cri du chat = "cat's cry " ) of affected children in early childhood.

Causes

It is also known as Lejeune 's syndrome, Cri syndrome, chromosome 5p syndrome, 5p syndrome ( five p minus syndrome) or in short form as CDC syndrome.

The cause of the CDC 's syndrome is a structural chromosome aberration (not numerically ) with partial deletion ( = item loss ) on the short arm of chromosome 5 ( = partial monosomy ). The loss is usually random and according to current knowledge without any particular external influences in the period of the last cell division of the oocyte.

In 15% of cases, the CDC 's syndrome is caused by an unbalanced chromosome translocation, which in 10% of children with one parent part of the corresponding chromosome arm is broken off and attached to another chromosome has ( = balanced translocation ). This parent has no CDC syndrome, since it balances the translocation ( = offset ) is present and the amount of genetic material has thus not changed. The probability that a child is born with the CDC 's syndrome whose mother or father has a corresponding balanced translocation, is 50%.

Frequency of occurrence

An estimated 50,000 children has a CDC - syndrome, and it is likely that the syndrome is often not recognized or is not diagnosed as such.

In a ratio of 5:1 are significantly more girls than boys of this chromosome specificity affected ( = Gynäkotropie ).

Symptoms

In most children with CDC syndrome includes additional features that may indicate the chromosome specificity. With no child all the features occur and the symptoms are not in all children before in the same expression. A definite diagnosis is therefore only possible by a chromosome analysis.

Common symptoms in people with CDC syndrome are:

  • Cat -like cry, high and shrill vocalizations in early childhood, with the time, however, lose themselves and to a malformation of the larynx ( laryngomalacia ) are returned
  • Growth failure ( dwarfism / under average height and average body weight )
  • Muscle weakness ( hypotonia )
  • A relatively small head ( microcephaly ), which is often elongated
  • Round face
  • Often quite deep seated and specially formed ( dysplastic ) ears
  • A narrow chin
  • A broadened and flattened nasal bridge
  • Relatively widely spaced eyes ( hypertelorism )
  • A small, crescent-shaped fold of skin at the inner corners of eyes ( epicanthus medialis)
  • Outward sloping palpebral fissures ( the outer canthus are lower than the inner)
  • Difficulty in sucking and swallowing (hence often breastfeeding difficulties )
  • Often chronic constipation
  • Frequent ear infections and upper respiratory tract
  • Rare malformations of internal organs, if present, the heart is mainly affected
  • Eye problems ( eg, optical atrophy, squint / strabismus, in the elderly often bilateral alternating)
  • Increase and broadening of reflexes ( hyperreflexia = )
  • Curvature of the spine (scoliosis ), often at an advanced age
  • Short metacarpal and / or metatarsal
  • Flat feet
  • Dental problems
  • Simian crease (not always)
  • Most severe delay in motor development
  • Usually strong delay of spoken language development
  • Cognitive disability with individually varying severity

Life expectancy

If no serious medical problems are present or occur, the life expectancy of people with CDC syndrome is apparently not significantly reduced, although still no long -term studies to do so. However, the emerging trend supports the hypothesis.

Diagnosis

It is possible, a CDC syndrome in the context of prenatal diagnosis using amniocentesis or chorionic villus sampling, or prenatally diagnose through which these studies, subsequent chromosome analysis already.

Postnatal diagnosis can be carried out by the examination of the blood of the child. If the child prior to translocation, the parents should be examined on a balanced translocation out. Thus, the probability can be estimated to expecting another child with the syndrome in subsequent pregnancies. The relevant region for the symptoms of the CDC 's syndrome in 5p15.3 - p15.2.

Therapy

A CDC syndrome is not incurable. So far, only the symptoms are more or less successfully influenced by medical and therapeutic treatment and social support.

It is not possible to safely predict the personal development of the individual child, where it is proven that most children learn to promote and demand, develop better than the others.

Most extraction methods that have a positive impact on children's development, are early intervention, physiotherapy, occupational therapy and speech therapy ( speech therapy, often combined or supported by methods of augmentative communication ).

In addition, it is important that early preventive treatment of dental problems.

Deletion (genetics) Medical diagnosis Congenital disorder Eyelid Breathing Organ (anatomy) Tendency Digital Object Identifier
14897
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