Global developmental delay, and Respiratory failure

Diseases related with Global developmental delay and Respiratory failure

In the following list you will find some of the most common rare diseases related to Global developmental delay and Respiratory failure that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21; and MMDS6 (OMIM ), caused by mutation in the PMPCB gene (OMIM ) on chromosome 7q22.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

Other less relevant matches:

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Top 5 symptoms//phenotypes associated to Global developmental delay and Respiratory failure

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Encephalopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Respiratory failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Tremor Flexion contracture Myoclonus Feeding difficulties Ataxia Lactic acidosis Increased serum lactate

Rare Symptoms - Less than 30% cases

Cerebral atrophy Infantile encephalopathy Strabismus Abnormality of the cerebral white matter Cerebellar hypoplasia Hypertonia Developmental regression Recurrent pneumonia Brain atrophy Tetraparesis Respiratory distress Hyperreflexia Rigidity Respiratory tract infection Apnea Recurrent respiratory infections Pneumonia Hypoventilation Fever Hearing impairment Dysarthria Gait ataxia Cerebellar atrophy Nystagmus Spasticity Hypertension Edema Fatigue Acidosis Polyhydramnios Microcephaly Arthrogryposis multiplex congenita Skin rash Immunodeficiency Hypsarrhythmia Lymphadenopathy Hepatic failure Thrombocytopenia Recurrent infections Dilatation Lymphoma Bronchiectasis Delayed myelination Splenomegaly Adducted thumb Brisk reflexes Hepatomegaly Anemia Neoplasm Multifocal seizures Hypometric saccades Tongue fasciculations Developmental stagnation Mild global developmental delay Distal arthrogryposis Axonal loss Global brain atrophy External ophthalmoplegia Fasciculations Camptodactyly Sinusitis Umbilical hernia Chorea Congenital hypothyroidism Abnormal cardiac septum morphology Abnormality of the thyroid gland Abnormality of movement Sleep disturbance Asthma Choreoathetosis Parkinsonism with favorable response to dopaminergic medication Abnormal lung morphology Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Infantile muscular hypotonia Hyperkinesis Polyneuropathy Increased thyroid-stimulating hormone level Recurrent sinusitis Atrial septal defect Chronic infection Muscular hypotonia Motor delay Skeletal muscle atrophy Ventricular septal defect Kyphoscoliosis Dystonia Compensated hypothyroidism Hypothyroidism Inguinal hernia Hernia Difficulty walking High palate Thyroid dysgenesis Abnormal cerebellum morphology Central hypoventilation Neurodegeneration Gliosis Pulmonary arterial hypertension Recurrent hypoglycemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Abnormality of metabolism/homeostasis Severe global developmental delay Neuronal loss in central nervous system Metabolic acidosis Congenital contracture Hypoplasia of the brainstem Hypoplasia of the pons Loss of Purkinje cells in the cerebellar vermis Coma Progressive neurologic deterioration Peripheral demyelination Lethargy Progressive encephalopathy Abnormality of mitochondrial metabolism Pain Congestive heart failure Abdominal pain Decreased fetal movement Bradycardia Ragged-red muscle fibers Poor appetite Irritability Severe lactic acidosis Increased serum pyruvate Decreased activity of mitochondrial complex I Caesarian section Decreased activity of mitochondrial complex IV Hypoglycemia Leukoencephalopathy Increased CSF lactate Dysmetria Spastic tetraparesis Abnormal muscle tone Congenital encephalopathy Visual impairment Hypoplasia of the corpus callosum Cerebral cortical atrophy Cerebellar vermis hypoplasia Spinal muscular atrophy Intellectual disability, progressive Peripheral neuropathy Babinski sign Abnormality of the eye Mental deterioration Ophthalmoplegia Abnormality of eye movement Poor eye contact Progressive microcephaly Cerebral edema Growth delay Myelopathy Vegetative state Skin erosion Encephalomalacia Cerebellar edema Intellectual disability Intellectual disability, severe Postnatal microcephaly Vomiting Constipation Gastroesophageal reflux EEG abnormality Muscular hypotonia of the trunk Feeding difficulties in infancy Polymicrogyria Exaggerated startle response


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