Generalized hypotonia, and Agenesis of corpus callosum

Diseases related with Generalized hypotonia and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Agenesis of corpus callosum that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Hypertonia
  • Muscular hypotonia of the trunk


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.

PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY Is also known as pdhbd|pyruvate dehydrogenase complex e1 component subunit beta deficiency

Related symptoms:

  • Generalized hypotonia
  • Agenesis of corpus callosum
  • Acidosis
  • Lactic acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Is also known as polymicrogyria with optic nerve hypoplasia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA

High match SCHIZENCEPHALY

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

POLYMICROGYRIA DUE TO TUBB2B MUTATION Is also known as polymicrogyria, symmetric or asymmetric|pmgysa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about POLYMICROGYRIA DUE TO TUBB2B MUTATION

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Heterotopia Polymicrogyria Hypoplasia of the corpus callosum Hypoplasia of the brainstem Strabismus Spasticity Hemiparesis Hydrocephalus

Rare Symptoms - Less than 30% cases

Blindness Dilatation Paralysis Tetraplegia Spastic tetraplegia Muscular hypotonia Hemianopia Motor delay Feeding difficulties Ataxia Cerebellar atrophy Cerebellar hypoplasia Focal-onset seizure Pachygyria Lissencephaly Cortical dysplasia Spina bifida Intellectual disability, profound Ptosis Scoliosis Hypoplasia of the pons Intellectual disability, severe Hypertonia Stridor Muscular hypotonia of the trunk Bimanual synkinesia Apnea Headache Dysphagia Nystagmus Anterior plagiocephaly Cyanosis Turricephaly Delayed cranial suture closure Plagiocephaly Spina bifida occulta Hepatic steatosis Low anterior hairline Dandy-Walker malformation Craniosynostosis Limb muscle weakness Opisthotonus Arnold-Chiari malformation Absent speech Esodeviation Congenital microcephaly Cerebellar dysplasia Abnormality of neuronal migration Cerebral visual impairment Cerebellar vermis hypoplasia Abnormal pyramidal sign Intellectual disability, mild Brachycephaly Occipital neuralgia Cervical myelopathy Inspiratory stridor Bulbar signs Myelomeningocele Syringomyelia Weak cry Partial agenesis of the corpus callosum High forehead Hypertelorism Increased serum lactate Unsteady gait Behavioral abnormality Sleep disturbance Inability to walk Profound global developmental delay EEG abnormality Cerebral cortical atrophy Hyperreflexia Abnormality of brainstem morphology Aplasia/Hypoplasia of the corpus callosum Colpocephaly Clonus Optic nerve hypoplasia Ankle clonus Respiratory tract infection Neonatal hypotonia Hyporeflexia Holoprosencephaly Porencephalic cyst Sensorineural hearing impairment Lactic acidosis Frontoparietal cortical dysplasia Unilateral polymicrogyria Limited extraocular movements Congenital fibrosis of extraocular muscles Limb hypertonia Acidosis Drooling Metabolic acidosis Schizencephaly Specific learning disability Abnormality of the eye Severe lactic acidosis Respiratory arrest Macrocephaly Cognitive impairment Abnormality of the skeletal system Agyria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Hyperinsulinemia, related diseases and genetic alterations Cognitive impairment and Neutropenia, related diseases and genetic alterations Micrognathia and Lower limb muscle weakness, related diseases and genetic alterations Anemia and Hypoglycemia, related diseases and genetic alterations Generalized hypotonia and Cough, related diseases and genetic alterations