Akondroplasi
Sist oppdatert: Sist revidert:
Sist revidert av:Terje Johannessen
Definisjon:
Er den vanligste formen for skjelettdysplasi og skyldes en genfeil. Den gir dysproporsjonal kortvoksthet med forkortning av armer og ben
Forekomst:
Insidensen er beregnet å ligge mellom 1 per 10.000 til 30.000 levendefødte
Symptomer:
Medfødt tilstand
Funn:
Er karakterisert ved en lang, smal trunkus og korte lemmer, særlig overarmer og lår
Undersøkelser:
Prenatal ultralyd, DNA-testing, ev. skjelettrøntgen
Behandling:
Behandle eller forebygge komplikasjoner
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- Terje Johannessen, professor i allmennmedisin, Trondheim
Tidligere fagmedarbeidere
- Nina Riise, overlege, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF
- Heidi Johansen, ergoterapispesialist i allmennhelse, Master i helsefagvitenskap, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF