| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, impaired/delayed motor and speech development, hypotonia, seizures, impairment of sensory and autonomic system (including obstipation, diarrhea, repeated episodes of apnea and/or desaturation, temperature dysregulation, reduced pain sensation and fever with unknown origin), endocrine and exocrine dysfunction (including pancreatic insufficiency, growth hormone deficiency, hypothyroidism, hypopituitarism, and hypoglycemia) and hematological abnormalities (including hypohemoglobinemia and thrombocytopenia). Craniofacial dysmorphism is reported in all patients with the most common features being high/broad forehead, depressed/wide nasal bridge, short nose, small mouth with tented upper lip vermilion and myopathic facial expression with open mouth. The clinical course during the first years of life can potentially be fatal. |
