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hypotonia
hypotonia (haɪpəʊˈtəʊnɪə) Freq. in anglicized form hypotony (haɪˈpɒtənɪ). [mod.L., f. hypo- 4 + Gr. τόν-ος tone n. + -ia1.] 1. Ophthalm. A state of reduced pressure of the intra-ocular fluid.1886 Syd. Soc. Lex., Hypotony... Applied by Nagel to the globe of the eye when less resistant than normal. 18...
Oxford English Dictionary
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Hypotonia
Signs and symptoms
Central hypotonia accounts for 60 to 80% of all hypotonia in infants. Speech difficulties can result from hypotonia.
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hypotonus
hypotonus (haɪpəˈtəʊnəs) [f. hypo- 4 + tonus.] 1. Ophthalm. = hypotonia 1. Now rare.1891 F. P. Foster Med. Dict. III. 1955/2 Hypotonus, that condition of the eye in which the intra-ocular tension is below normal, without being of necessity accompanied by any organic disease of the eyeball. 1918 R. H...
Oxford English Dictionary
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Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures , hypotonia and heart, urinary, and gastrointestinal abnormalities.
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hypotonicity
hypotonicity (ˌhaɪpəʊtəˈnɪsɪtɪ) [f. prec. + -ity.] The condition of being hypotonic. a. Physiol. Of a solution (see hypotonic a. 1 a): the extent to which a solution has a lower osmotic pressure than some other.1906 Amer. Jrnl. Physiol. XV. 367 Osmotic changes in the direction of hypotonicity. 1939 ...
Oxford English Dictionary
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2-Hydroxyglutaric aciduria
Presentation
The signs/symptoms of this condition are consistent with the following:
Intellectual disability,
Muscular hypotonia
Encephalitis
Seizures This form is chronic, with early symptoms such as hypotonia, tremors, and epilepsy declining into spongiform leukoencephalopathy, muscular choreodystonia
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-tonia
-tonia (ˈtəʊnɪə) also anglicized as -tony, terminal element [f. Gr. τόν-ος tone n. + -ia1] with the sense ‘tone, condition’ in terms in Med., as hypotonia, sympathicotonia.
Oxford English Dictionary
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HIDEA syndrome
HIDEA syndrome is a syndrome characterised by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. Musculoskeletal system
Hypotonia
Planovalgus
Contractures in elbow joints
Interphalangeal joint hypermobility
Other associated features include
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CHAMP1-associated intellectual disability syndrome
often show the following signs and symptoms:
Intellectual disabilities
Speech delays
Epicanthic fold
Drooping of the lower lip
Feeding difficulties
Hypotonia of the face
Ataxia
Hyperopia
High palate
Widespread developmental delays
Gastroesophageal reflux
Widespread hypotonia
Decreased sense of pain
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Al-Raqad syndrome
It is characterized by:
Microcephaly
Growth delay
Psycho-motor developmental delay
Congenital hypotonia.
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Neonatal Hypotonia & Overflow Incontinence: Causes & Reasons - Symptoma
Neonatal Hypotonia & Overflow Incontinence Symptom Checker: Possible causes include Spinal Cord Injury. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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NME3
Clinical significance
Mutations in this gene have been associated with congenital hypotonia, hypoventilation and cerebellar histopathological alterations
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3p deletion syndrome
Reports symptoms in patients with 3p deletion syndrome are intellectual disability, delayed psychomotor development, abnormal facial features, muscular hypotonia Syndromes with intellectual disability
Syndromes with seizures
Genetic anomalies
Chromosomal abnormalities
Syndromes with microcephaly
Syndromes with hypotonia
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FG syndrome
Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial ; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting upper lip; and most
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PURA syndrome
known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia Etimology
This condition was first discovered in 2014 by Lalani et al. when they described 11 individuals with neonatal-onset hypotonia, encephalopathy
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