TWIST2 works to prevent the premature maturation of chondrogenic cells and osteoblasts, the cells that will form cartilage and bone respectively. The dominant mutation in TWIST2 leads to the chondrogenic and osteoblastic cells becoming mature prematurely. This then leads to the primary craniofacial deformities seen in AMS patients. Diagnosis
Ablepharon macrostomia syndrome can be diagnosed at birth by identification of characteristic physical findings, clinical evaluation, and specialized imaging techniques such as CT scans. CT scans can confirm the absence of the zygomatic arch and abnormalities in the cranial and mandibular bones. An ophthalmologist can diagnose abnormalities in the eyelids and confirm microblepharon or ablepharon. Teams of specialist will typically work together to confirm diagnosis and assess treatment options. Pediatricians, gastroenterologists, dermatologists, urologists, and other care providers can be expected to aid in the diagnosis and treatment. Treatment
Primary treatment focuses on relief of immediate symptoms such as providing lubrication to the eyes to relieve pain and dryness; antibiotics may also be prescribed to prevent infections and inflammation. Surgical measures can be taken and a plastic surgeon can correct the lack of eyelids through reconstructive surgery. Surgery to correct malformations of the mouth, ears, genitals, fingers, and skin can also be performed as necessary. Macrostomia, the wide, fish-like mouth, can be corrected by a maxillofacial surgeon. The skin can be treated by means of creams to alleviate dryness and coarseness; in certain cases, botulinum toxin and skin grafts were used to improve the overall appearance.
Heberdens nodes are hard or bony swellings that can develop in the distal interphalangeal joints (DIP) (the joints closest to the end of the fingers and toes). They are a sign of osteoarthritis and are caused by formation of osteophytes (calcific spurs) of the articular (joint) cartilage in response to repeated trauma at the joint.Heberdens nodes typically develop in middle age, beginning either with a chronic swelling of the affected joints or the sudden painful onset of redness, numbness, and loss of manual dexterity. This initial inflammation and pain eventually subsides, and the patient is left with a permanent bony outgrowth that often skews the fingertip sideways. Bouchards nodes may also be present; these are similar bony growths in the proximal interphalangeal (PIP) joints (middle joints of the fingers), and are also associated with osteoarthritis. Heberdens nodes are more common in women than in men, and there seems to be a genetic component involved in predisposition to the condition. They are named after William Heberden (1710–1801). See also
Bouchards nodes Also present in martial artists, in particular judoka and Brazilian jiu-jitsu practitioners. References


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