Achondroplasie

the Achondroplasie (also Chondrodysplasie or Chondrodystrophia fetalis mentioned) is the most frequent characteristic of the skeleton system. It becomes autosomal - dominance left (in approximately 20%) or results from new mutation, whereby the probability of the occurrence with the child rises in particular with the age of the biological father.

Table of contents

to frequency

the Inzidenz amounts to approx. 3/100.000 births.

a cause

the Achondroplasie is the result of a point mutation in fibroblasts the growth factor receptor gene FGFR-3 (engl: f ibroblast g rowth f actor r eceptor 3). This autosomal dominant factor mutation leads to a disturbance of the cartilage formation; the bone growth zone (epiphysis joint) is prematurely verknöchert, which leads to the restriction of length growth above all the arms and leg (extremities) (enchondrale Ossifikation).

About 80% of the cases are due to new mutations. Causally a G (1138) is present A point mutation in the FGFR-3 in 96% of the cases. Thereby at position 380 the amino acid glycine is exchanged by arginin. In 3% of the cases a G (1138) can be proven to C point mutation, with glycines by Glutamin is exchanged. Embryos with homozygoter mutation (both the paternal and the mütterliche variant of the gene are changed) are not lebensfähig and die already in the nut/mother body (intrauterin).

symptoms

the Achondroplasie leads to a disproportionierten less stature. Since the uncommon cartilage formation in particular in the tube bone a rule-fair development do not become possible leaves, strongly shortened, awkward extremities are characteristic. Further symptoms:

due to their relatively long trunk have humans a nearly normal seat level. The final size lies between 120 and 148 cm, which are not cognitive development impaired.

therapy

the therapy orients itself at the symptoms. With functional handicaps by the leg axle and spinal column position as well as with paralyses beginning decompressing and stabilizing interferences at the spinal column can be made. Studies over growth hormone therapies (GH) were accomplished, the results however still stand, since the persons involved did not reach yet the adult age. An operational leg extension with length gain up to 20 cm is possible.

see also

Wiktionary: Achondroplasie - word origin, synonyms and translations

Apert syndrome

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