Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids, and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. It is one of the most common autosomal recessive disorders in humans.
Hyperplasia, or hypergenesis, is an enlargement of an organ or tissue caused by an increase in the amount of organic tissue that results from cell proliferation. It may lead to the gross enlargement of an organ, and the term is sometimes confused with benign neoplasia or benign tumor.
Parotitis is an inflammation of one or both parotid glands, the major salivary glands located on either side of the face, in humans. The parotid gland is the salivary gland most commonly affected by inflammation.
Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause.
Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases.
Inflammatory papillary hyperplasia (IPH) is a benign lesion of the oral mucosa which is characterized by the growth of one or more nodular lesions, measuring about 2mm or less. The lesion almost exclusively involves the hard palate, and in rare instances, it also has been seen on the mandible. The lesion is mostly asymptomatic and color of the mucosa may vary from pink to red.
Segmental odontomaxillary dysplasia is a painless, unilateral enlargement of the upper jaw. The cause is unknown, and the disease affects the jaws, teeth, and adjacent soft tissue. The premolars may be congenitally missing, and the primary teeth may be smaller than usual. It is a relatively recent discovery.
Parry–Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise cause and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 and 15 years of age.
Gingival enlargement is an increase in the size of the gingiva (gums). It is a common feature of gingival disease. Gingival enlargement can be caused by a number of factors, including inflammatory conditions and the side effects of certain medications. The treatment is based on the cause. A closely related term is epulis, denoting a localized tumor on the gingiva.
Hemihypertrophy, now more commonly referred to as hemihyperplasia in the medical literature, is a condition in which one side of the body or a part of one side of the body is larger than the other to an extent considered greater than the normal variation. As establishing a set of clinical criteria for diagnosis of hemihyperplasia is difficult, the dictum is often used that the clinician should be able to see the asymmetry "from the end of the bed".
Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide.
Epulis is any tumor like enlargement situated on the gingival or alveolar mucosa. The word literally means "(growth) on the gingiva", and describes only the location of the mass and has no further implications on the nature of the lesion. There are three types: fibromatous, ossifying and acanthomatous. The related term parulis refers to a mass of inflamed granulation tissue at the opening of a draining sinus on the alveolus over the root of an infected tooth. Another closely related term is gingival enlargement, which tends to be used where the enlargement is more generalized over the whole gingiva rather than a localized mass.
Right atrial enlargement (RAE) is a form of cardiomegaly, or heart enlargement. It can broadly be classified as either right atrial hypertrophy (RAH), overgrowth, or dilation, like an expanding balloon. Common causes include pulmonary hypertension, which can be the primary defect leading to RAE, or pulmonary hypertension secondary to tricuspid stenosis; pulmonary stenosis or Tetralogy of Fallot i.e. congenital diseases; chronic lung disease, such as cor pulmonale. Other recognised causes are: right ventricular failure, tricuspid regurgitation, and atrial septal defect. Right atrial enlargement (RAE) is clinically significant due to its prevalence in diagnosing supraventricular arrhythmias. Further, early diagnosis using risk factors like RAE may decrease mortality because patients with RAE are at 9x more risk of arrhythmias and other cardiac conditions compared to their healthy counterparts.
Condylar hyperplasia is over-enlargement of the mandible bone in the skull. It was first described by Robert Adams in 1836 who related it to the overdevelopment of mandible. In humans, mandibular bone has two condyles which are known as growth centers of the mandible. When growth at the condyle exceeds its normal time span, it is referred to as condylar hyperplasia. The most common form of condylar hyperplasia is unilateral condylar hyperplasia where one condyle overgrows the other condyle leading to facial asymmetry. Hugo Obwegeser et al. classified condylar hyperplasia into two categories: hemimandibular hyperplasia and hemimandibular elongation. It is estimated that about 30% of people with facial asymmetry express condylar hyperplasia.
Condylar hypoplasia is known as underdevelopment of the mandibular condyle. Congenitally (primary) caused condylar hypoplasia leads to underdeveloped condyle at birth. Hypoplasia of mandible can be diagnosed during birth, in comparison to the hyperplasia which is only diagnosed later in growth of an individual.
Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene. The condition is a part of the PIK3CA related overgrowth spectrum (PROS). The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983.
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia, is a milder form of congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.
Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle cramps of severe intensity, and acral hypertrophy/enlargement. Only 2 cases have been reported in medical literature.
Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathologic causes instead of true athleticism. It is also referred to as a Herculean or bodybuilder-like appearance. It may be the result of muscle inflammation, muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy, or symmetrical subcutaneous deposits of fat or other tissue.
