Acalvaria
What is Acalvaria? Acalvaria is an extremely rare congenital malformation characterized by an […]
Rare Diseases
Abruzzo Erickson syndrome
Abruzzo Erickson syndrome An orofacial clefting syndrome that is characterized by a cleft
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Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome An extremely rare multiple congenital malformation syndrome characterized by the
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Aberfeld syndrome
Aberfeld syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia mask-like facies
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Aase Syndrome
Aase Syndrome A very rare genetic disorder This disease characterised by the following
ANOTHER Syndrome
ANOTHER Syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by the association of
AMME syndrome
AMME syndrome A rare constitutional hemolytic anemia that is characterised by the association