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10 Possible Causes for Muscle Hypotonia, Profound Psychomotor Developmental Delay

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    There is generalized muscle hypotonia , laxity and hyperextensibility of joints. Pes planus , genu recurvatum , habitual dislocation are common.[atulchoube.wordpress.com] Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental[rarediseases.org]

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood.[ncbi.nlm.nih.gov] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech , psychomotor delay, and postnatal microcephaly .[pesquisa.bvsalud.org] Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental[rarediseases.org]

  • Mental Retardation

    hypotonia and intellectual deficit.[orpha.net] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov] In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development,[rarediseases.org]

  • Trisomy 8q

    Physical findings : Failure to thrive; difficulties with swallowing and feeding; gastroesophageal reflux; and abnormal muscle tone (ranging from hypotonia to spasticity).[secure.ssa.gov] Psychomotor retardation is always severe-to-profound.[lirias.kuleuven.be] Trisomy 9p is often characterized by low muscle tone (hypotonia) as well as growth deficiency and delayed bone maturation, which means that the rate of growth and development[rarediseases.org]

  • Mirhosseini-Holmes-Walton Syndrome

    Mental Retardation Is A Constant Feature And Growth Retardation Occurs In Most Cases Behavior And Performance Myopia Muscle Hypotonia Exists From Infancy And Persists Into[neo-genetics.com] delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[findzebra.com] Hypotonia Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced[howlingpixel.com]

  • Cerebellar Hypoplasia and Atrophy

    Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems[diseaseinfosearch.org] If these babies survive the fetal period, PCH clinically manifests as profound psychomotor retardation, developmental delay, problems with movement, and a variable cerebral[xpertdox.com] hypotonia Cataract Cognitive impairment SOURCES: UMLS ORPHANET More info about MUSCLE-EYE-BRAIN DISEASE High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL[mendelian.co]

  • Ectodermal Dysplasia-Sensorineural Deafness Syndrome

    Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies.[reference.md] Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] Audiometric examinations were consistent with these findings and showed conductive and profound sensorineural hearing loss.[jmg.bmj.com]

  • Thyro-Cerebro-Renal Syndrome

    The movement problems typically begin around age 1, although they can begin in early infancy or later in life, and are often preceded by weak muscle tone (hypotonia).[ghr.nlm.nih.gov] ., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity[rarediseases.org] The optic nerves swell and become damaged DeGrouchy’s Syndrome A person who has DeGrouchy’s will have a short stature, hypotonia (lack of muscle tone), hearing impairment,[tsbvi.edu]

  • Nephrotic Syndrome Type 9

    Neuromuscular abnormalities may include diminished muscle tone throughout the body (generalized hypotonia); poor ability to control movements of the head; and/or an inability[rarediseases.org] ., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity[rarediseases.org] […] body (generalized hypotonia), and visual impairment and abnormal eye movements (nystagmus).[rarediseases.org]

  • ANE Syndrome

    Hypotonia may be present in Williams syndrome, and this disorder of muscle tone should warn of a possible interaction with anaesthetic agents.[williams-syndrome.org] Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ...[kegg.jp] psychomotor retardation.[kegg.jp]

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