Sindrome di Aarskog, cause, sintomi e cura

La Sindrome di Aarskog è una malattia genetica molto rara causata da una mutazione del cromosoma X: colpisce essenzialmente i nati maschi influenzandone la statura, i tratti del viso, i genitali e lo sviluppo di muscoli ed ossa. Nelle femmine la malattia non è esclusa, ma in genere si manifesta in una forma più moderata. Scopriamone insieme le cause, i sintomi e le possibilità di cura.

sindrome aarskog

Cause della sindrome Aarskog

Come accennavamo, la causa di questa patologia è genetica ed ereditaria. Per andare maggiormente nello specifico è provocata da una mutazione sul gene della displasia faciogenitale, o FGD1, del cromosoma X. I cromosomi x sono trasmessi dai genitori ai figli e poiché i maschi ne contano uno solo è più probabile che sviluppino i sintomi della malattia. Le femmine ne hanno invece 2 e quindi se pure uno è portatore del difetto genetico, l’altro va automaticamente a compensare. Per questo le donne possono essere semplici portatrici o sviluppare una forma più lieve della sindrome.

Quali i sintomi della sindrome Aarskog?

La sindrome di Aarskog colpisce quattro principali aree anatomiche: il viso, muscoli e struttura ossea, genitali e il cervello, secondo modalità che non sono visibili alla nascita, ma che cominciano ad identificarsi a partire dai 3 anni. E’ molto variabile, cioè questi segnali possono essere più o meno importanti e visibili e non colpire significativamente tutte le aree. Ecco quali.

Caratteristiche del viso

 

  • attaccatura dei capelli a V (picco di vedova)
  • ipertelorismo (anche nelle femmine portatrici sane)
  • volto tondo
  • narici anteverse
  • naso largo, anche se piccolo
  • occhi sgranati-impostati
  • occhi a mandorla
  • palpebre oblique, tendenti verso il basso
  • ampia rientranza sopra il labbro superiore
  • orecchie prominenti e cadenti
  • ritardo della crescita dei denti

Muscoli e ossa

  • bassa statura
  • petto rientrato
  • mani e piedi larghi e piccoli
  • dita palmate
  • pliche tra i palmi delle mani
  • mignoli arricciati

Tali parametri sono abitualmente normali alla nascita, per poi cambiare (un rallentamento della crescita) fino a tutta la pubertà, ritardata. Vi è poi uno scatto di crescita nella tarda adolescenza, ma difficilmente il ragazzo recupererà l’altezza media.

Malformazioni genitali

 

  • nodulo nel scroto o all’inguine, noto anche come ernia
  • testicoli che non sono discesi (criptorchidismo)
  • ritardata maturazione sessuale
  • macrorchidismo
  • rarissima l’ipospadia
  • La ferilità rimane inalterata.

 

 

Lo sviluppo del cervello

La sindrome Aarskog può anche causare lieve a moderata deficienze mentali, tra cui:

  • performance cognitiva lento
  • Disturbo da deficit di attenzione (ADHD / ADD)
  • sviluppo cognitivo ritardo

Spesso questi sintomi sono legati esclusivamente alla prima infanzia. Quando presente, un ritardo mentale è raramente grave.

 

Diagnosi e cura

La diagnosi avviene tramite l’osservazione clinica dei sintomi e va confermata con un test genetico che valuti la mutazione sul gene FGD1 del bambino.
Purtroppo, non esiste una cura per questa sindrome: il trattamento è in genere limitato a correggere eventuali anomalie come la chirurgia ortodontica e dentale per riparare i denti storti, per togliere le ernie o far scendere i testicoli.

Altri interventi mirano al sostegno per ritardi cognitivi e di sviluppo.

 

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Sindrome di Zollinger-Ellison: cause, sintomi e cura

Emofilia, significato, tipi e possibilità di cura

 

 

Fonte: Health line

Foto: Thinkstock

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