Cyprus facial neuromusculoskeletal syndrome is a rare autosomal dominant genetic disorder characterized by a "mephistophelian" appearance consisting of a ridged, thick triangular skin fold extending from the glabella up into the anterior fontanel, alongside other symptoms such as hypertelorism, widows peak, low-set ears, kyphoscoliosis congenita, congenital clubfoot, hip dislocation, and arthrogryposis. Additional findings include cataracts, decreased articular range of motion, ptosis, and ankylosis, and, less commonly, mild sensory deficits with muscle weakness and atrophy. It has been described in a large 3-generation Greek Cypriot family. == References ==
Additionally, medical providers will inquire about any medical conditions that other members of the family may have, as well as assess the psychological and social circumstances of the child and family.Next, a complete physical examination may be done, with special attention being paid to identifying possible organic sources of FTT. This could include looking for dysmorphic features (differences in physical features that may indicate an underlying medical disorder), abnormal breathing sounds, and signs of specific vitamin and mineral deficiencies. The physical exam may also reveal signs of possible child neglect or abuse.Based on the information gained from the history and physical examination, a workup can then be conducted, in which possible sources of FTT can be further probed through blood work, x-rays, or other tests. Laboratory workup should be done in response to specific history and physical examination findings. Medical providers should take care not to order unnecessary tests, especially given estimates that the usefulness of laboratory investigations for children with failure to thrive is 1.4%. Initial bloodwork may include a complete blood count (CBC) with differential to see if there are abnormalities in the number of blood cells, a complete metabolic panel to look for electrolyte derangements, a thyroid function test to assess thyroid hormone activity, and a urinalysis to test for infections or diseases related to the kidneys or urinary tract. If indicated, anti-TTG IgA antibodies can be used to assess for celiac disease, and a sweat chloride test can be used to screen for cystic fibrosis.