/palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Rare Disease

MONDO:0014751

Also Known As

palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndromeCPRFcleft palate, psychomotor retardation, and distinctive FACIAL featurescleft palate, psychomotor retardation, and distinctive Facial features

Definition

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.