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    Benign Congenital Hypotonia Professional

    Benign Congenital Hypotonia, Synonym: congenital hypotonia with favourable outcome (CHFO) The diagnosis of benign congenital hypotonia (BCH) is now a controversial on...

    Lowe's (Oculo-Cerebro-Renal) Syndrome Professional

    The classical diagnostic triad includes: Congenital cataracts Neonatal or infantile hypotonia with subsequent mental impairment Renal tubular dysfunction progressing to chronic...

    Mulibrey Nanism Professional

    Clinical features Feeding difficulties and respiratory tract infections are the most common problems in infancy. [ 3 ] Growth failure of prenatal origin and congenital short stature [ 4 ] ...

    Pompe's Glycogen Storage Disease Professional

    Glycogen accumulation in muscle and peripheral nerves causes hypotonia and weakness. Glycogen deposition in blood vessels may result in intracranial aneurysms.

    Joubert's Syndrome Professional

    Synonyms: Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, familial cerebellar vermis agenesis, cerebello-oculo-renal syndrome. [ 1 ] Joubert's syndrome is a rare autosomal rec...

    Pelizaeus-Merzbacher Disease Professional

    Although the disease is associated with spasticity, there may be hypotonia in early life. In severe cases, the neonatal hypotonia may resemble spinal muscular atrophy but over 90% ...

    Prader-Willi Syndrome Professional

    Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hypotonia and developmental delay as an infant and obesity, learning disability and behavioural problems (especially...

    Kernicterus Professional

    There is hypotonia followed by hypertonia, opisthotonus (hyperextension of the spine causing backward arching of the neck and back) or retrocollis (backward arching of the neck).

    Spinal Muscular Atrophy Professional

    General clinical signs are that of lower motor neurone weakness: Flaccid weakness (muscles soft and floppy) Hypotonia Reduced or absent tendon reflexes Normal or absent plantar ...

    Down's Syndrome (Trisomy 21) Professional

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility.

    Ehlers-Danlos Syndromes Professional

    Musculoskeletal: in some types herniation, hypotonia, delayed motor development. In some types kyphoscoliosis, dental abnormalities. Ocular: in some types abnormalities of the globe and co...

    Glutaric Acidaemia Professional

    Failure to thrive, hypotonia and hypoglycaemia are other features. It may damage the basal ganglia. Acute striatal necrosis in infancy is the main cause of morbidity associated with the co...

    Wolf-Hirschhorn Syndrome Professional

    Severe general learning disability, severe limitation of comprehension and speech, seizures, ataxic gait, hypotonia, muscle hypertrophy. Microcephaly, a distinct 'Greek warrior helmet&...

    Moebius Syndrome Professional

    The incidence of autistic spectrum disorders is 30% in patients with Moebius sequence. [ 3 ] Neurological sequelae Hypotonia , pharyngeal weakness, feeding difficulties . Res...

    Cerebellar Disorders Professional

    Cerebellar hemisphere lesions can produce classic ipsilateral limb ataxia (intention tremor, past pointing and mild hypotonia). Limb rebound can be demonstrated by gently pushing down on outs...

    Cri du Chat Syndrome Professional

    Feeding difficulties (poor suck, dysphagia, muscle hypotonia, gastro-oesophageal reflux). Other typical features include: Microcephaly.

    Pyruvate Carboxylase Deficiency Professional

    Neonates have axial hypotonia and tachypnoea during the first hours of life. [ 4 ] Other features which may be seen with this disorder include: Failure to thrive .

    Tay-Sachs Disease Professional

    Delay in psychomotor development. Hypotonia (followed by spasticity) Visual loss. A macular cherry-red spot. Pathogenesis Tay-Sachs disease (and its variants) are caused by ab...

    Agenesis of the Corpus Callosum Professional

    Potential causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities and meta...

    Renal Fanconi Syndrome Professional

    Some cases are inherited, but the mode of inheritance appears to be variable (autosomal-dominant, autosomal-recessive, X-linked). [ 4 ] Secondary: cystinosis, tyrosinaemia, Wilson's disease, L...