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96 Possible Causes for High-Pitched Cry, Muscle Hypotonia

  • Rathbun Syndrome

    The Rathbun syndrome, also known as hypophosphatasia, is a congenital, autosomal recessive disease caused by defective encoding of tissue-nonspecific alkaline phosphatase leading to peripheral (serum and tissue) deficiency of this enzyme. The illness has several degrees of severity, causing symptoms at various[…][symptoma.com]

  • Dubowitz Syndrome

    pitched cry or voice.[brighthub.com] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] These include: A soft or high-pitched cry or voice Partial webbing of the toes Cleft palate or less severe palate malformations Genital abnormalities, including undescended[encyclopedia.com]

  • Maple Syrup Urine Disease

    […] a distinctive maple sugar odor in earwax, sweat, and urine irregular sleep patterns alternating episodes of hypertonia (muscle rigidity) and hypotonia (muscle limpness) high-pitched[healthline.com] These signs include: Poor appetite Trouble sucking during feeding Weight loss High pitched cry Urine that smells sweet like maple syrup or burnt sugar Sleeping longer or more[babysfirsttest.org] Signs and symptoms of Maple Syrup Urine Disease are: Poor feeding, lack of energy (lethargy) Vomiting Poor muscle tone (hypotonia) Developmental delay Backward arching of[dovemed.com]

  • Bilirubin Encephalopathy

    […] of the earliest symptoms seen in acute disease, whereas abnormal extension of the neck (retrocollis), generalized aching and opisthotonus, fever, convulsions, and a very high-pitched[symptoma.com] […] spasticity or hypotonia, impaired vertical gaze, and deafness; nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that[icd9data.com] cry.[ajnr.org]

  • 22q11.2 Duplication Syndrome

    Infants often have a high-pitched cry and low birth weight.[portal.bsc.gwu.edu] […] tone (hypotonia).[thinkgenetic.com] Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia).[malacards.org]

  • Chromosome 6q11-q14 Deletion Syndrome

    Features: cat like cry (high pitched) in infants, due to abn of the larynx. microcephaly low birth weight hypotonia severe MR and psychomotor delay.[brainscape.com] Hypotonia Nervous System Seizures Respiratory System Tracheo-Esophageal Fistula Gastrointestinal System Intestinal Malformations Synonyms: 6Q- Syndrome 6Q Deletion Syndrome[neo-genetics.com] pitched voice Abnormality of bone mineral density Cat cry Cognitive impairment Ventricular septal defect Intestinal malrotation Short palpebral fissure Scaling skin Asthma[mendelian.co]

  • Pallister-Killian Syndrome

    Babies with Cri du Chat have a high-pitched cry, poor muscle tone, a small head size, and low birthweight.[stanfordchildrens.org] Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] Babies with Cri du Chat have a high pitched cry, poor muscle tone, a small head size and low birthweight.[chw.org]

  • Reye Syndrome

    High-pitched cry. The symptoms of Reye syndrome may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.[chw.org] Sleepiness or lethargy Sudden and prolonged vomiting Combative behavior Rapid breathing and heart rate Seizures Coma Increased intracranial pressure Increased irritability High-pitched[stanfordchildrens.org] cry The symptoms of Reye syndrome may resemble other conditions or medical problems.[stanfordchildrens.org]

  • Ketoadipicaciduria

    […] determined Specific gene not determined (5q31.2-q31.3) Biochemical profile: Elevated CSF glutamate Clinical features: Seizure disorder refractory to conventional anticonvulsants, high-pitched[merckmanuals.com] Generalized hypotonia MedGen UID: 346841 • Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone).[ncbi.nlm.nih.gov] , SOFT TISSUE: Edema of dorsum of hands and feet; Hypotonia NEUROLOGIC: [Central nervous system]; Mental retardation, moderate to severe; Delayed motor development; Seizures[findzebra.com]

  • Wolf Hirschhorn Syndrome

    […] infants) associated with a piece of chromosome 5 is missing, see reviews. [4] [5] Cri du Chat - audio recording Clinical Features Malformations (infrequently associated) high-pitched[embryology.med.unsw.edu.au] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] Hypotonia Generalized muscle hypotonia was observed at birth.[symptoma.com]

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