van Maldergem syndrome
A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Van Maldergem Wetzburger Verloes syndrome
related
Van Maldergem syndrome
exact
cerebro-facio-articular syndrome of Van Maldergem
related