Muscular hypotonia, and Full cheeks

Diseases related with Muscular hypotonia and Full cheeks

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Full cheeks that can help you solving undiagnosed cases.

Top matches:

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

Other less relevant matches:

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10|gpibd10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

PONTOCEREBELLAR HYPOPLASIA TYPE 6 Is also known as fatal infantile encephalopathy with mitochondrial respiratory chain defects|pch6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 6

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Full cheeks

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Deeply set eye Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Full cheeks. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Absent speech Intellectual disability Hypertonia Feeding difficulties Abnormal facial shape Hyperreflexia Hypoplasia of the corpus callosum Growth delay Neonatal hypotonia Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases

Infantile encephalopathy Cerebral atrophy Hypsarrhythmia Cerebellar atrophy Short nose Status epilepticus Tented upper lip vermilion Encephalopathy Cerebellar hypoplasia Ventriculomegaly Broad nasal tip Upper airway obstruction Motor delay Poor suck Astigmatism Apnea Macrocephaly Narrow forehead Kyphoscoliosis Thin upper lip vermilion Progressive microcephaly Generalized-onset seizure Generalized myoclonic seizures Cleft palate Muscular hypotonia of the trunk Optic atrophy Hepatic steatosis Lactic acidosis Delayed gross motor development Hearing impairment Hepatic failure Round face Abnormality of the liver Spasticity Hepatomegaly Sensorineural hearing impairment Involuntary movements Overfolding of the superior helices Speech articulation difficulties Inability to walk Mandibular condyle hypoplasia Upslanted palpebral fissure Long philtrum Postnatal microcephaly Wide nasal bridge Temporomandibular joint ankylosis Hypertelorism Mutism Hypoplastic superior helix Gastroesophageal reflux Central hypotonia Severe muscular hypotonia Pachygyria Open mouth Intellectual disability, profound Sloping forehead Brain atrophy Tapered finger Polymicrogyria Retrognathia Myoclonus Question mark ear Mandibular condyle aplasia Edema Elevated alkaline phosphatase Bruxism Snoring Dental crowding Epicanthus Ankylosis Bulbar palsy Cupped ear Preauricular skin tag Upper limb spasticity Small posterior fossa Global brain atrophy Dental malocclusion Micrognathia Low-set ears Respiratory distress Hirsutism Low-set, posteriorly rotated ears Posteriorly rotated ears Atrophy/Degeneration affecting the brainstem Glossoptosis Narrow mouth Prominent nasal bridge Large earlobe Shortening of all distal phalanges of the fingers Tented philtrum Clinodactyly Visual loss Long penis Lethargy Adducted thumb Increased serum lactate Progressive visual loss Cerebellar vermis hypoplasia Lower limb spasticity Central apnea Narrow palate Poor head control Increased CSF lactate Elevated serum creatine phosphokinase Increased hepatic glycogen content Agenesis of corpus callosum Epileptic encephalopathy Long eyelashes Cerebral visual impairment Widely spaced teeth Nystagmus Delayed speech and language development Obesity Prominent forehead Pes planus Reduced visual acuity Polyhydramnios Spastic paraplegia Hypermetropia Paraplegia Delayed myelination Esotropia Optic disc pallor Thick eyebrow Constipation Progressive spastic paraplegia Long toe Anemia Frontal bossing Abnormality of the coagulation cascade Long fingers Microcytic anemia Macrocytic anemia Acute hepatic failure Intrauterine growth retardation Dysphagia Hydronephrosis Joint laxity Postnatal growth retardation Cholestasis Decreased liver function CNS hypomyelination Hyperextensible skin Visual impairment Plagiocephaly Partial agenesis of the corpus callosum Sinus tachycardia Cardiomegaly Immunodeficiency Midface retrusion Hepatosplenomegaly Hypoglycemia Peripheral axonal neuropathy Thin vermilion border Distal amyotrophy Ventricular hypertrophy Myopathy Hypertriglyceridemia Left ventricular hypertrophy Hepatic fibrosis Exercise intolerance Hyperlipidemia Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Intellectual disability, mild Cardiomyopathy Limb hypertonia Camptodactyly Dilation of lateral ventricles Abnormal CNS myelination Esophoria Strabismus Talipes equinovarus Abnormality of the dentition Telecanthus Talipes Depressed nasal bridge Nevus Overgrowth Amblyopia Accelerated skeletal maturation Curved fingers Short stature Muscle weakness Cleft at the superior portion of the pinna


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