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Shwachman-Diamond syndrome is a rare genetic type of medicalcondition. It may affect a large number of different organs in the human body,and different people may experience different symptoms of the condition. Inspite of all that, all cases are characterized by certain hematologicabnormalities and pancreatic defects. A large number of cases also involveshort stature and certain forms of skeletal abnormalities. The exact causes ofthis type of disorder are largely unknown. According to various different typesof clinical characteristics which may be associated with Schwachman-Diamondsyndrome it can be divided into two categories which are its primary featuresand other features.

Primary Features of Shwachman-Diamond Syndrome

The primary features of Shhwachman-Diamond syndrome include smallstature at all ages, poor growth in childhood, skeletal abnormalities,pancreatic defects and different sorts of hematologic abnormalities. Childrenwho suffer from Shwachman-Diamond syndrome are usually smaller than average atbirth, and these features are usually persistent throughout their later yearsof development as well. It is a peculiar fact that in spite of the smallstature and poor growth, the weight is usually appropriate for the height ofthe affected child. Normal nutritional status is commonly achieved by enzymetreatment, but it still cannot be of much help in dealing with small stature.It is common for these features to be associated with delayed puberty as well. Atleast half of all cases of Shwachman-Diamond syndrome are characterized by acertain type of skeletal abnormality which is medicinally referred to asmetaphyseal dyschondroplasia or metaphyseal dysostosis. These abnormalitiesusually affect the hips or the knees and can only be visible on an X-ray scan,since they do not involve any visible or clinical problems. The growth plate ofthe bone may sometimes be affected, and the same can be said for the top of thefemur and the knee joint. These medical problems may only be resolved by asurgical intervention. Some cases may also involve certain changes of thecartilage in the vicinity of the ribcage. This occurrence is medicinallyreferred to as costochondrial thickening. A small number of cases ofShwachman-Diamond syndrome may also be involved with certain rib cageabnormalities such as a narrow rib cage and shortened ribs with flared ends. Severalother rarer cases of skeletal abnormalities may include duplicated distal thumbphalanx, dislocation of the end of the femur, vertebral collapse, growth arrestlines, thinning of the bones and bent fingers. Another feature on the list ofprimary features of Shwachman-Diamond syndrome is the pancreatic defect. Forthose who do not know, the pancreas is a certain organ in the human body whichis in charge of the production of insulin and various sorts of digestiveenzymes. The part of the pancreas which is in charge of the production ofdigestive enzymes is the one which gets affected by the SDS. This medicalproblem is referred to as pancreatic insufficiency. These pancreatic problemsare commonly characterized by certain symptoms such as loose stools, foulsmelling stools and bulky stools which indicate that the intestines are notable to absorb all the fats and nutrients from the foods consumed. That is themain reason why it may be related to numerous different types of nutritionaldeficiencies. Replacement enzymes are usually used to take care of thesepancreatic defects. The most common primary features of Shwachman-Diamondsyndrome are certain sorts of hematologic abnormalities. The bone marrowproduces three different types of blood cells and those include white bloodcells, red blood cells and platelets. Among the most common hematologicabnormalities associated with SDS is neutropenia, which is actually a low countof neutrophils. It often leads to the development of various serious types ofinfections which may sometimes be lethal. Other less common types ofhematologic abnormalities may include anemia (which is low red cell count),thrombocytopenia (low platelet count) and pancytopenia (low count of all threetypes of blood cells). Some cases may also involve acute myelogenous leukemiaand complications such as the bone marrow failure.

Other Features of Shwachman-Diamond Syndrome

There are certain secondary features of Shwachman-Diamondsyndrome which can be observed only in some cases. Those may or may not includea wide array of medical problems and conditions such as dental dysplasia, toothdecay, tooth enamel defects, periodontal disease, liver enzyme abnormalities,large appetites, kidney stones, renal tubular acidosis, renal lithiasis,drooping of the upper eyelid, strabismus, coloboma, punctuate keratitis, scalyskin, enlarged heart and myocardial fibrosis.

The Diagnosis of Shwachman-Diamond Syndrome

The biggest problem with proper diagnosis ofShwachmand-Diamond syndrome is that it is a very challenging task due to so manyvariations in its clinical features. Hematologic and exocrine pancreaticabnormalities are usually the main criteria upon which the diagnosis can bebased. Short stature and skeletal abnormalities are commonly considered as thesecondary criteria which only support the diagnosis.

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