High palate, and Muscular hypotonia of the trunk

Diseases related with High palate and Muscular hypotonia of the trunk

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

Top matches:

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Other less relevant matches:

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Epicanthus Absent speech Talipes equinovarus Spastic tetraplegia Encephalopathy Flexion contracture Cerebral atrophy Optic atrophy Scoliosis Hypertonia Macrotia Cerebellar hypoplasia Cerebellar atrophy Acidosis Neonatal hypotonia Metabolic acidosis Spastic paraplegia Lactic acidosis Tetraplegia Tetraparesis Depressed nasal bridge Growth delay Progressive microcephaly Nystagmus Hypsarrhythmia Talipes Feeding difficulties Visual impairment Hypertelorism Delayed speech and language development Ataxia Babinski sign

Rare Symptoms - Less than 30% cases

Respiratory distress Abnormal pyramidal sign Severe lactic acidosis Vomiting Dystonia Ventriculomegaly Respiratory insufficiency Intrauterine growth retardation Poor coordination Small hand Increased serum lactate Failure to thrive Delayed myelination Clonus Hypoplasia of the brainstem Progressive encephalopathy Edema Cataract Agitation Broad-based gait Gait ataxia Brachycephaly Proptosis Tremor Abnormality of the cerebral white matter Spastic tetraparesis Long philtrum EEG abnormality Prominent nose Unsteady gait Short stature Highly arched eyebrow Delayed ability to walk Intellectual disability, severe Pes cavus Hearing impairment Apnea Postnatal microcephaly Motor delay Paraplegia Facial hypotonia Spastic diplegia Brain atrophy Bulbous nose Trigonocephaly Progressive leukoencephalopathy Anemia Abnormality of eye movement Dysarthria Dilatation Pectus excavatum Agenesis of corpus callosum Thin upper lip vermilion Coma Severe global developmental delay Hemolytic anemia Progressive neurologic deterioration Psychomotor deterioration Frontoparietal polymicrogyria Wide intermamillary distance Respiratory failure Polyhydramnios Retrognathia Developmental regression Irritability Hyperactivity Arthrogryposis multiplex congenita Polymicrogyria Leukodystrophy Diffuse leukoencephalopathy Severe muscular hypotonia Leukoencephalopathy Abnormality of mitochondrial metabolism Opisthotonus Episodic fever Loss of speech Pendular nystagmus Posteriorly rotated ears Primitive reflex Partial agenesis of the corpus callosum Simple febrile seizures Difficulty running Drooling Apraxia Psychosis Choreoathetosis Clumsiness Spastic gait Paraparesis Spastic paraparesis Progressive spasticity Parkinsonism Restlessness Macroorchidism Bruxism Shuffling gait Slender build Excessive salivation Progressive spastic paraparesis Mania Abnormality of extrapyramidal motor function Genu valgum Lipoma Subependymal cysts Abnormal facial shape Corpus callosum atrophy Poor fine motor coordination Recurrent infections Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Projectile vomiting Pneumonia Poor gross motor coordination Micrognathia Macrocephaly Gait disturbance Short neck Abnormality of the dentition Intellectual disability, mild Kyphosis Increased serum pyruvate Long palpebral fissure Myopathy Sloping forehead Blindness Wide nasal bridge Cerebral cortical atrophy High forehead Protruding ear Decreased muscle mass Narrow chest Narrow forehead Skeletal muscle atrophy Long eyelashes Cerebral visual impairment Narrow palate Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Hydrocephalus Basal ganglia cysts Fever Wide mouth Hepatomegaly Cardiomyopathy Cerebral palsy Febrile seizures Focal-onset seizure Thick vermilion border Short philtrum Bradykinesia Fulminant hepatic failure Cholestasis Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Coarse facial features Increased CSF lactate Central hypoventilation Tapered finger Mandibular prognathia Elbow flexion contracture Dolichocephaly Downturned corners of mouth Dyskinesia High, narrow palate Full cheeks Underdeveloped nasal alae Decreased body weight Poor head control Truncal titubation Joint laxity Loss of ability to walk Thoracic scoliosis Hypoplasia of the pons Pontocerebellar atrophy Aggressive behavior Cognitive impairment Synophrys Titubation Clinodactyly Abnormal cerebellum morphology Clinodactyly of the 5th finger Thick eyebrow Rigidity Pallor Dysmetria Thin vermilion border Flat face Cyanosis Broad face Long face Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Focal impaired awareness seizure Oral-pharyngeal dysphagia Ankle clonus Juvenile cataract


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