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Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. [ 2 ]
[10] 5 percent of individuals with Sotos syndrome have one affected parent. [10] In the Japanese population, the most common genetic change leading to Sotos syndrome is a microdeletion in the region of chromosome 5 containing the NSD1 gene (5q35 microdeletion). [11] In Japan, this microdeletion comprises over 50 percent of cases compared to ...
In disease states, maxillary prognathism is associated with Cornelia de Lange syndrome; [8] however, so-called false maxillary prognathism, or more accurately, retrognathism, where there is a lack of growth of the mandible, is by far a more common condition.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. [ 1 ]
Motivation on the patient's part is necessary if they are going to undergo lengthy orthodontic treatment and major surgery. In addition, they need to be well informed so that they may give valid consent. In terms of history, the family history and perhaps obstetric history may be relevant, especially when features of a syndrome are present.
Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, ...
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.