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676 Possible Causes for Craniosynostosis, Hypertelorism, Rarely Malignant

  • 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[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[] Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[]

  • 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.[] We present the first reported case associating MPS-I (Hurler-Scheie subtype) with craniosynostosis. A 2.5-year-old girl presented initially with macrocrania.[] […] syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[]

  • Craniorhiny

    However, pleural metastases of soft tissue sarcoma that constitute less than 1% of adult solid malignancy are extremely rare.[] The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum.[] Craniosynostosis syndrome MedGen UID: 1163 • Concept ID: C0010278 • Disease or Syndrome A congenital disorder characterized by earlier than normal closure of some or all sutures[]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    […] results in abnormal skin growth The most common cause of acanthosis nigricans is insulin resistance , usually from type 2 diabetes mellitus .Involvement of mucous membranes is rare[] Secondary symptoms can include exophthalmos, hypertelorism and exotropia. Vertebral body deformity and hearing impairment can also be present.[] Craniosynostosis. Am Fam Physician. 2004 Jun 15;69(12):2863-2870. 3.0 3.1 3.2 3.3 Craniosynostosis and Craniofacial Disorders.[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma.[] […] malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism[] Symptoms - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus The list of signs and symptoms mentioned in various sources for Craniosynostosis, sagittal[]

  • Gorlin-Chaudhry-Moss Syndrome

    TLS was rarely described in patients with malignant melanoma.[] […] vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism[] [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[]

  • Cerebellotrigeminal Dermal Dysplasia

    LFS is an autosomal dominant familial tumor syndrome characterized by a spectrum of malignant neoplasms. 81.[] We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and[] This boy was evaluated shortly after birth because of suspected craniosynostosis.[]

  • Autosomal Dominant Prognathism

    Have polyps in small intestines & rarely become malignant.[] Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.[] Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes[]

  • Hypomandibular Faciocranial Dysostosis

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[] Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.[] This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition.[]

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