Langer-Giedion syndrome (LGS) is an extremely rare genetic disorder that is typified by facial features and abnormalities of the bone, including sparse hair growth, larger than normal nose and ears, and fingers and toes that are malformed; as explained by https://rarediseases.org. LGS is caused by damage or mutation to the genes on one section of one of the chromosomes of the cell that control the cell’s development. No cure has yet been found for LGS and current treatment is focused on managing the symptoms, which even though not deadly, adversely affect the quality of life of the patient.
Signs and Symptoms of LGS
Facial feature: Patients having LGS have a set of characteristic facial and bone deformities. These include thin hair growth, disproportionately large ears that stick out, an upper lip that has the indentation missing, a nose that is unusually round and large and broad eyebrows.
Bone abnormalities:It is quite common for LGS patients to have exostoses that are bony growths along the ends of bones, as well as irregular cone-shaped bone ends, in the hands and feet. The exostoses are seen very early on in the life of the patient and increase as the child grows both in size and number. The bony growths can cause pain and also affect the person’s ability to bend joints. Bone growth may be affected to such an extent that the bone remains stunted without reaching the normal length expected in an adult.
LGS patients may also have a head size that is smaller than normal, short stature, delayed mental growth, joints that are overly flexible, redundant skin, poor muscle tone, hearing loss and delayed speech development.
The characteristic symptoms and signs are usually the basis of diagnosis of LangerGiedion syndrome. For confirmation, a blood test for genetic profiling is done at a competent lab. The presence and extent of the bone abnormalities are evaluated with the help X-rays, CT scans or MRIs as deemed appropriate by the doctor. This needs to be done on a continual basis to keep track of the growths on the interior bones that cannot be seen physically. The physician will also record any problems that the patient is experiencing from abnormal bone growth such as bowed arms or legs, lack of normal joint movement, and short stature. Based on the symptoms, additional testing may be required to check for delayed mental development as well as impairments in speech or hearing.
Since there is no cure at present for LGS, the treatment is focused on giving relief to the symptoms. Some of the facial deformities may be corrected with cosmetic surgery that includes otoplasty for setting the ears that are sticking out closer to the head, rhinoplasty to improve the appearance and size of the nose, and blepharoplasty for tightening eyelids that droop. Surgery may be recommended if exostoses are limiting mobility, causing pain or affecting the growth of one side of the body. Physical therapy may be advised to maintain or increase the flexibility of limbs. The patient, as well as the family members, can benefit from psychological counseling.
LGS can be a very difficult condition to live with. It is very important to seek medical assistance that will correctly identify the symptoms and suggest both short-term and long-term methods to manage the condition as best possible.