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144 Possible Causes for Hypertelorism, Profound Mental Retardation, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[] With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML.[]

  • Down Syndrome

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

  • Cockayne Syndrome

    Discussion XP-CS is a very rare disorder that combines the clinical features of XP and Cockayne syndrome.[] It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[] Facial and skull x-rays showed the nasal bridge in the shape of a hook and hypertelorism. Over the years, the patient’s face loses fatty tissue.[]

  • 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[] […] malformation 0001305 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing 0002007 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism[]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[] In a further 25% (4/16), the level of mental retardation was too profound to permit formal assessment.[] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[]

  • Basal Encephalocele

    Both benign and malignant neoplasms are found in this category.Despite the complicated development of the nose, congenital anomalies are rare, with an incidence of one in[] The index is higher than 42 in hypertelorism in North American Caucasians [ 11 ].[] mental retardation, congenital muscular dystrophy, and death usually in the first years of life.[]

  • Pelviscapular Dysplasia

    Sarcomatous dedifferentiation ( osteosarcoma [most common 10 ], fibrosarcoma, malignant fibrous histiocytoma, or rarely chondrosarcoma ) is occasionally seen ( 1%) and is[] UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[] mental retardation, congenital muscular dystrophy, and early death.[]

  • Ring Chromosome 22

    Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant, embryonal tumors most often occurring in children under age 3 years.[] The clinical findings include epicanthus, flat nasal bridge, hypertelorism, long eye-lashes, lymphoedema, hypoplastic toe nails, hydrocephalus and muscular hypotonia.[] We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders.[]

  • 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.[] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[] mental retardation or developmental delay (80%) hypertonia (68%) spasticity (356%) others: hypotonia, seizures Craniofacial Manifestations micrognathia (100%) ocular hypertelorism[]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    FGF is a rare but an important hereditary disorder. Our report outlines the details of a single family experience and the malignant transformation in two family members.[] Wynne et al .[ 4 ] have reported on three generations of one family with an autosomal dominant expression of gingival fibromatosis with associated hearing deficiencies, hypertelorism[] Profound mental retardation is observed in severe forms of MPS-I and MPS-II, and in all types of MPS-III, usually with early death in childhood.[]

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