La condrodisplasia puntata rizomelica ha una prevalenza stimata in 1:100.000. E' caratterizzata da nanismo che colpisce soprattutto il tratto rizomelico ( femore e omero ), tipico aspetto del viso (ampio ponte nasale, epicanto, palato ogivale, orecchie esterne displasiche, micrognazia)  alterazioni vertebrali, cataratta, lesioni cutanee e grave ritardo mentale. Le alterazioni vertebrali consistono caratteristicamente in lesioni coronali dei corpivertebrali. La malattia è causata da un difetto del metabolismo dei perossisomi e viene trasmessa come carattere autosomico recessivo.

Ne esistono tre forme:

Condrodisplasia Puntata Rizomelica Tipo   I o RCDP1   OMIM 215100

Condrodisplasia Puntata Rizomelica Tipo  II o  RCDP2  OMIM 222765

Condrodisplasia Puntata Rizomelica Tipo III  o RCDP3  OMIM 600121

La diagnosi si basa sul quadro clinico e radiografico e può essere confermata dall'analisi molecolare.

La diagnosi prenatale è possibile quando la mutazione genica è già stata identificata nella famiglia. Non è disponibile una specifica terapia per la correzione del difetto enzimatico. La condrodisplasia rizomelica ha una prognosi sfavorevole e la morte di solito sopravviene nella prima decade di vita, in particolare per le complicazioni respiratorie.

CONDRODISPLASIA PUNTATA TIPO NON RIZOMELICO

Questo gruppo comprende varie forme a trasmissione diversa e prevalenza non nota, che sono:

Condrodisplasia Puntata legata all'X dominante o Sindrome di Conradi-Hunermann OMIM 302960

Condrodisplasia Puntata Brachitelefalangica   OMIM 302950

Condrodisplasia Puntata tibio-metacarpale   OMIM 118651

Condrodisplasia Puntata di Sheffield   OMIM 118650

Sindrome di Toriello   OMIM 215105

La Condrodisplasia Puntata legata all'X Dominante o Sindrome di Conradi-Hünermann può essere diagnosticata in epoca prenatale, di solito nel III trimestre. E' caratterizzata da bassa statura legata ad ipoplasia di omero e femore (l'omero è colpito principalmente), asimmetria degli arti, scoliosi, epifisi slargate con multipli foci iperecogeni, contratture articolari; segni presenti ma non evidenziabili all'ecografia sono l'eritroderma ittiosiforme lamellare e la cataratta, che può essere monolaterale. L'intelligenza è normale. La malattia colpisce prevalentemente le femmine ed è più grave o addirittura letale nei maschi. È trasmessa come carattere dominante legato all'X, dovuta a mutazioni nel gene EBP che codifica per un enzima coinvolto nel metabolismo del colesterolo. 

La condrodisplasia brachitelefalangica  si associa a gravi dismorfismi facciali caratterizzati da ipoplasia della parte mediana della faccia,  con naso abnormemente corto e sella appiattita, mascella iposviluppata, prognatismo e/o 'morso inverso' (o malocclusione di classe III), calcificazioni soprattutto nel tarso e negli arti inferiori e falangi distali ipoplasiche. La statura e l'intelligenza sono normali o pressoché normali. La malattia è ereditata come carattere recessivo legato all'X ed è causata da una mutazione nel gene ARSE. 

L'assunzione materna di anticoagulanti in gravidanza, il deficit dei fattori della coagulazione dipendenti dalla vitamina K e il deficit materno di vitamina K possono causare sintomi simili a quelli della condrodisplasia puntata brachitelefalangica. Le calcificazioni in prossimità delle epifisi possono essere presenti anche nella sindrome feto-alcolica e nei feti nati da madri con lupus eritematoso sistemico.  

Condrodiplasia puntata di tipo tibio-metacarpale: presenta facies tipica (piatta, naso piccolo), arti corti (tibie piccole, II e III osso metacarpale piccoli), schisi coronale dei corpi vertebrali, punteggature calcifiche.

Condrodisplasia puntata di tipo Sheffield: è una forma lieve, autosomica dominante,caratterizzata da facies tipica, calcificazioni puntiformi del calcagno, statura bassa.

Sindrome di Toriello: in aggiunta alle epifisi slargate con multipli foci iperecogeni è caratterizzata da bassa statura, lievi anomalie facciali e coloboma.

La condrodisplasia puntata può essere diagnosticata ecograficamente in epoca prenatale, di solito negli stadi avanzati della gravidanza, ma la classificazione esatta richiede approfondimenti biochimici (ricerca di steroli anomali e acidi grassi a catena molto lunga) sui campioni di liquido amniotico.  La prognosi è molto variabile.

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