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Abnormality of the head
- ... children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as ...
- ... characterized by craniosynostosis, which leads to a misshapen head and distinctive facial features. Affected individuals also have hand and foot abnormalities. The FGFR1 gene variants that cause this condition ...
- ... premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the ...
- ... smooth surface (lissencephaly), sometimes with an abnormally small head size (microlissencephaly); slits or clefts in one or both halves of the brain (schizencephaly); or other cortical abnormalities. In some affected individuals, a region of the ...
- ... syndrome is a genetic disorder characterized by skeletal abnormalities. A key ... affects the shape of the head and face. In addition, a varied number of ...
- ... the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of ...
- ... most commonly bipolar disorder), a pattern of movement abnormalities known ... small head (microcephaly). Affected males may have enlarged testes (macro- ...
- ... Some affected individuals have a larger than normal head (macrocephaly). Many people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers ...
- ... an inherited disorder characterized by an abnormally small head size (microcephaly), profound developmental delay and intellectual disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in the skin called ...
- ... syndrome is a condition that can cause multiple abnormalities. People with ... size (microcephaly). Affected individuals have distinctive facial features ...
