Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Synonyms: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome?
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