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.
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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Fonte: Health line
Foto: Thinkstock
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