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424 Possible Causes for Muscle Hypotonia, Polyhydramnios

  • Hypophosphatasia

    Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[ncbi.nlm.nih.gov] Other clinical findings included polyhydramnios, blue sclerae and spurs in the mid-portion of the forearms and lower legs.[doi.org] These infants have a history of poor feeding and failure to thrive , developmental delays, and muscle weakness. Hypotonia has also been reported.[emedicine.medscape.com]

  • Pallister-Killian Syndrome

    Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] PKS may be suspected based on the prenatal ultrasound detection of polyhydramnios and diaphragmatic hernia, possibly associated with rhizomelic micromelia.[ncbi.nlm.nih.gov] This disorder is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, developmental delay/intellectual disability, distinctive facial features[secure.ssa.gov]

  • Beckwith-Wiedemann Syndrome

    Preterm delivery of a child with BWS is associated with an increased frequency of polyhydramnios, gestational hypertension, and vaginal bleeding in the mother.[ncbi.nlm.nih.gov] Polyhydramnios was obvious and the fetal heart enlarged progressively during pregnancy.[ncbi.nlm.nih.gov] Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly[ncbi.nlm.nih.gov]

  • Neonatal Hypotonia

    . , , Source MeSH Abnormalities, Multiple Blepharophimosis Dental Enamel Hypoplasia Face Female Humans Infant, Newborn Intellectual Disability Male Muscle Hypotonia Syndrome[unboundmedicine.com] RESULTS: 91 infants were included. 42 (46.2%) had prenatal history abnormalities: polyhydramnios (28.6%), intrauterine growth restriction (21.4%) and pelvic presentation ([ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

  • Pontocerebellar Hypoplasia Type 1B

    […] include: Connective tissue symptoms Flexion contracture Head abnormality Tongue atrophy Tongue fasciculations Limb abnormality Abdominal abnormality Feeding difficulties Muscle[familydiagnosis.com] PCH1 is characterized prenatally often by polyhydramnios with arthrogryposis mutiplex congenital.[orpha.net] The pregnancy sometimes is complicated by polyhydramnios.[rarediseases.org]

  • X-Linked Centronuclear Myopathy

    In affected males, first symptoms of the classical type usually started postnatally with severe weakness, muscle hypotonia, feeding difficulties, and respiratory failure.[thieme-connect.com] Signs of antenatal onset are frequent and comprise reduced fetal movements and polyhydramnios. Thinning of the ribs is observed on chest radiographs of the newborn.[orpha.net] Individuals with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that is usually evident at birth.[secure.ssa.gov]

  • Urioste Martinez-Frias Syndrome

    Signs and symptoms : Signs and symptoms of Urioste sydrome include muscular hypotonia (low or weak muscle tone), hepatic failure, postaxial hand polydactyly (extra little[xpertdox.com] […] distention Genitourinary Internal Genitalia Male: cryptorchidism mullerian duct remnants (uterus and fallopian tube in male patients) Prenatal Manifestations Amniotic Fluid: polyhydramnios[malacards.org] […] distention GenitourinaryInternal GenitaliaMale: cryptorchidism mullerian duct remnants (uterus and fallopian tube in male patients) Prenatal Manifestations Amniotic Fluid: polyhydramnios[malacards.org]

  • Antenatal Onset Minicore Myopathy with Arthrogryposis

    LIMBS:  Decreased muscle bulk (Egs:- SMA, Undernutrition.)  Fasciculation (SMA)  Confirm hypotoniamuscles appear flabby  Decreased resistance to passive movements of[dnbpediatrics.com] ., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal[mendelian.co] The fetal period was complicated by nuchal translucency, fetal akinesia, and polyhydramnios.[bio2rdf.org]

  • Fetal Akinesia - Cerebral and Retinal Hemorrhage Syndrome

    Generalized hypotonia MedGen UID: 346841 • Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone).[ncbi.nlm.nih.gov] 2 flexion contracture 32 HP:0001371 3 elevated serum creatine phosphokinase 32 HP:0003236 4 decreased nerve conduction velocity 32 HP:0000762 5 thin ribs 32 HP:0000883 6 polyhydramnios[malacards.org] Polyhydramnios MedGen UID: 6936 • Concept ID: C0020224 • Pathologic Function A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 4

    Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.[icd10data.com] This form is characterized by polyhydramnios, neonatal hypotonia, and neuronal involvement; hepatopathy is uncommon, and the babies usually die between 4 weeks and 4 months[humpath.com] Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body.[ghr.nlm.nih.gov]

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