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396 Possible Causes for Hypertelorism, Rarely Malignant, Umbilical Hernia

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[] Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[]

  • Gorlin-Chaudhry-Moss Syndrome

    TLS was rarely described in patients with malignant melanoma.[] Surgery may also be necessary to correct craniofacial abnormalities, conductive hearing loss, umbilical hernia and visual impairment.[] […] vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism[]

  • Weaver Syndrome

    This is likely to be an overestimate, biased by failure to report cases without tumors and by over-reporting cases with this rare association.[] hernia, and hoarse low-pitched cry.[] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[]

  • Fraser Syndrome

    , as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.[] Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies[] Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs.[]

  • Acrocallosal Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[] hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication.[] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Hall, A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family, American[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[]

  • Congenital Exomphalos

    Cardiomyopathy is rare. Patients are highly predisposed to embryonal malignancies primarily in the first 8 years of life with a risk estimate of 7.5% (range of 4 - 21%).[] Umbilical hernia is a type of hernia of the anterior abdominal wall when organs of the abdominal cavity protrude into the subcutaneous tissue through the umbilical ring.[] […] syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) Donnai-Barrow syndrome Postoperative changes after surgical mesh hernia repair: a pitfall in interpretation[]

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[] Cardiovascular defects, mental retardation, hypogenitalism, and umbilical hernias are additional findings (Owen 1952; Robinson et al. 1985).[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[]

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