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323 Possible Causes for Dolichocephaly, Mental Retardation

  • Homocystinuria

    It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.[] Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities.[] A young child with homocystinuria is discussed, who presented with behavioral abnormalities, involuntary movement, mental retardation, and decreased vision since birth.[]

  • Sotos Syndrome

    Sotos syndrome, or cerebral gigantism, is a rare genetic condition characterized by tall stature, gigantism, dolichocephaly, advanced bone age and learning disability.[] Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[] […] inherited in an autosomal-dominant manner and is characterized by increased birth weight, excessive growth, advanced bone age, and distinctive facial features, including dolichocephaly[]

  • Richards-Rundle Syndrome

    [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria 0002919 5%-29% of people have these symptoms Dolichocephaly[] A rare syndrome with association of mental retardation, ataxia, and deafness.[] retardation, failure to develop secondary sexual characteristics, and ketoaciduria; autosomal recessive inheritance.[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly[] The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation,[] Retrusion, and Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal[]

  • Trisomy 18

    Various congenital malformations, mental retardation, and high rate of infant mortality in the first year of life are characteristic features of trisomy 18.[] Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies,[] It causes severe congenital abnormalities and mental retardation although phenotypic features, clinical manifestations and prognosis vary occasionally.[]

  • Crouzon Syndrome

    This is present in combinations of: turricephaly, frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly[] retardation.[] The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation.[]

  • Three M Syndrome

    Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped[] retardation.[] Other findings include dolichocephaly, flattening of the forehead due to fusion of the coronal sutures, narrowed interorbital distance, elbow dysplasia, shortened ulna, pseudo-epiphyses[]

  • Dyggve-Melchior-Clausen Syndrome

    […] family ROENTGENOGRAPHIC ANALYSIS Roentgenograms taken over a span of 5% years (Patient 1 ) and 4% years (Patient 2) showed (Fig. 3a-e) generalized reduced bone density; dolichocephaly[] Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.[] The skull commonly shows dolichocephaly or microcephaly. The chest is barrel-shape with protruding sternum. The knees have genu valgum or genu varum.[]

  • Neurofibromatosis Type 1

    All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development.[] […] criteria of category B and C were also met: namely, asymmetric, disproportionate overgrowth of the limbs, hyperostosis of the skull, lipomas, facial phenotypic features such as dolichocephaly[] retardation or learning disabilities.[]

  • Prader-Willi Syndrome

    […] features including almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, a narrow forehead, and a disproportionately long, narrow head (dolichocephaly[] Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] Also note dolichocephaly and hypoplastic, empty scrotum.[]

Further symptoms

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