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351 Possible Causes for Neonatal Hypotonia, Small Foot

  • Prader-Willi Syndrome

    Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS.[] The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus.[] Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, hyperphagia, childhood obesity at an early age, short stature, varying degrees of mental deficiency, and[]

  • Early Infantile Epileptic Encephalopathy Type 2

    Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types[] Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked disorder comprising severe developmental delay, facial dysmorphism, neonatal hypotonia,[] Neonates have poor suckling reflexes, hypotonia and manifest with generalized and symmetrical tonic spasms that can appear in clusters or singly and can last for up to 10[]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Hypotonia: Perinatal Motor, early Development: Delayed Feeding difficulty Weakness Severe Axial & Generalized Respiratory Face Course: Slow progression Ophthalmoplegia (40%[] Pro742Ser; Leu1367Val Recessive missense: Glu100Lys; Phe275Leu CACNA1S protein effects CACNA1S levels: Reduced Ca release induced by depolarization: Impaired Clinical Onset age: Neonatal[]

  • Autosomal Recessive Spastic Paraplegia Type 20

    SPG52 AP4S1 14q12 AP4S1 Complicated: neonatal hypotonia that progresses to hypertonia. Dysmorphic features.[] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[] […] form is fatal; the early childhood form causes hypotonia and psychomotor retardation; the late childhood form causes poor coordination, gait and language acquisition disorders[]

  • Rett Syndrome

    Both showed neurological symptoms from the neonatal period, including hypotonia, irritability and severe microcephaly.[]

  • Acrootoocular Syndrome

    Hypotonia Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA[] Early hypotonia is observed in nearly all JSRD patients and can be recognized in the neonatal period or in infancy.[] Neonatal seizures are common. Bony stippling (chondrodysplasia punctata) of the patella (e) and other long bones may occur.[]

  • Pityriasis Circinata

    Neonatal hypotonia, weal motility, and hyporeactivity have been reported,” he said.[] […] to medium-sized blisters, usually affecting the inner aspect of the foot ( vesiculobullous type).[] In pregnant women, pityriasis rosea is sometimes associated with miscarriage if occurring within the first 15 weeks of pregnancy, premature delivery, or neonatal hypotonia[]

  • Neuropathy

    The impediment to neuronal development starts in utero , and thus clinical features such as poor suck, hypotonia, and temperature instability are usually present in the neonatal[] Perform strength testing and examine for distal intrinsic extremity muscle atrophy, since weakness of small foot muscles may develop.[] At an annual check the test for neuropathy will involve the doctor stimulating the foot with a small plastic implement or tuning fork to see if you correctly detect the sensation[]

  • Foot Deformity

    228156007 ] [ICD9CM: 317-319.99 ] [UMLS: C0025362 , C3714756 HPO: HP:0001249 ] [HPO: HP:0001249 UMLS: C0025362 , C0423903 , C0917816 , C1843367 , C3714756 , C4020876 ] - Neonatal[] The intrinsic foot muscles (the small muscles in the sole of the foot that help move the toes) are weaker than the extrinsic muscles (the larger muscles in the lower leg that[] The baby's foot is moved a small amount at a time to help it develop properly.[]

  • Cerebro-Oculo-Facio-Skeletal Syndrome

    They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties[] X-ra. studies may reveal displacement of the small foot bones between the ankle and toes (second metatarsals) and neuroimaging studies may show reduced white matter with gray[]

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