Respiratory Abnormalities: Causes & Reasons

Possible Causes for Respiratory Abnormalities

Many newborns with a severe enzyme deficiency initially appear well but rapidly develop hyperammonemia and lethargy, anorexia, abnormal respiratory patterns, hypothermia, [clinicalgate.com]

If one suffers from hyperammonemia, a result of UCD, the following symptoms may manifest: Fatigue Lethargy Vomiting Respiratory issues Seizures Behavior issues Gait abnormalities [doctordaliah.wordpress.com]

abnormalities, and finally coma. [centogene.com]

Yellow Nail Syndrome

Definition (NCI) A rare syndrome characterized by the presence of thickened yellow nails, lymphedema, and respiratory abnormalities, including pleural effusion, bronchiectasis [fpnotebook.com]

Hereditary lymphedema and yellow nails ( C0221348 ) Definition (MSH) A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory [fpnotebook.com]

Definition (MSH) A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. [fpnotebook.com]

Acute Respiratory Acidosis

Mechanisms of respiratory acidosis include increased carbon dioxide production, alveolar hypoventilation, abnormal respiratory drive, abnormalities of the chest wall and respiratory [ncbi.nlm.nih.gov]

Alkalosis Change in pH = 0.008 X (40 - PCO2) Chronic Respiratory Alkalosis Change in pH = 0.017 x (40 - PCO2) Caveats Metabolic acid base problem exists if pH is abnormal [uichildrens.org]

Metabolic compensation for primary respiratory abnormalities, however, is slow and may take several days. [courses.washington.edu]

Charcot-Marie-Tooth Disease Type Guadalajara

[…] of the respiratory system (HP:0002086) Abnormality of head or neck (HP:0000152) Abnormality of the nervous system (HP:0000707) Abnormality of the integument (HP:0001574) [eurofins-biomnis.com]

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Type Division Internationale Lundi-Vendredi : De 8h30 à 18h30 Tél : +33 4 72 80 23 85 Contact par email Code pathologie: OMIM:118230 Aire(s) thérapeutique(s) associée(s) : Abnormality [eurofins-biomnis.com]

Surfactant Metabolism Dysfunction

[…] of the respiratory system Decreased DLCO Ground-glass opacification on pulmonary HRCT Pulmonary alveolar proteinosis Reduced forced expiratory volume in one second Reduced [ncbi.nlm.nih.gov]

[…] forced vital capacity Restrictive ventilatory defect Tachypnea Growth abnormality Failure to thrive IMPORTANT NOTE: NIH does not independently verify information submitted [ncbi.nlm.nih.gov]

CSF2RX, CSF2RY, GM-CSF-R-alpha, GMCSFR, GMCSFR-alpha, GMR, GMR-alpha, SMDP4, alphaGMR, CSF2RA Summary: colony stimulating factor 2 receptor subunit alpha Show allHide all Abnormality [ncbi.nlm.nih.gov]

Joubert Syndrome Type 10

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

Early signs, as abnormal eye movements and respiratory abnormalities might suggest this possibility, but in most of cases, clinical features are non-specific. [scielo.br]

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

Mitochondrial DNA-Related Leigh Syndrome and NARP

Individuals with MILS may develop a variety of respiratory abnormalities including the temporary cessation of spontaneous breathing (apnea), difficulty breathing (dyspnea) [rarediseases.org]

Respiratory dysfunction Respiratory dysfunction was present in 37.7% with hyperventilation and/or abnormal breathing pattern being the most prevalent type (20.0%), followed [ojrd.biomedcentral.com]

abnormalities, and developmental delays. [rarediseases.org]

X-Linked Charcot-Marie-Tooth Disease Type 1

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Nemaline Myopathy, Cap Myopathy AD,AR 100 27 of 27 TRIP4 Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory [igenomix.es]

Fatal Neonatal Radiculoneuropathy

abnormalities (ARDS) • Renal failure (anuria) • Gastrointestinal bleeding • Hepatocellular necrosis • Aseptic meningitis • fatal course in 2 % of cases (ehrlichiae in lungs [fr.slideserve.com]

Erythema Laboratory findings • Leukopenia - neutropenia, lymphopenia • Trombocytopenia • Anemia • Liver enzymes elevation • High sedimentation rate and CRP Complications • Respiratory [fr.slideserve.com]

Distal Hereditary Motor Neuropathy Type 9

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Dominant Intermediate Charcot-Marie-Tooth Disease

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Autosomal Dominant Spastic Paraplegia Type 3

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Autosomal Recessive Spastic Paraplegia Type 5A

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

X-Linked Spastic Paraplegia Type 1

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Charcot-Marie-Tooth Disease Type 2M

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

X-Linked Charcot-Marie-Tooth Disease Type 2

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Infantile-Onset Distal Myopathy

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Charcot-Marie-Tooth Disease Type 2H

[…] of the respiratory system Intercostal muscle weakness Respiratory failure Stridor Abnormality of the voice Vocal cord paresis Constitutional symptom Urinary incontinence [ncbi.nlm.nih.gov]

Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, [igenomix.es]

Areflexia Decreased distal sensory nerve action potential Distal sensory impairment Hyporeflexia Obstructive sleep apnea syndrome Oculomotor nerve palsy Sensory neuropathy Abnormality [ncbi.nlm.nih.gov]

Joubert Syndrome Type 5

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

Infants with respiratory abnormalities should be closely monitored. [news-medical.net]

Early signs, as abnormal eye movements and respiratory abnormalities might suggest this possibility, but in most of cases, clinical features are non-specific. [scielo.br]

Distal Trisomy 2p

In severe cases, cardiac, respiratory, and/or renal abnormalities may result in life-threatening complications during the first years of life. [rarediseases.org]

Approximately half of infants with chromosome 10, distal trisomy 10q may have defects of the heart that are present at birth (congenital heart defects), respiratory abnormalities [rarediseases.org]

(pulmonary) abnormalities. [rarediseases.org]

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

[…] of the nervous system Calcification of falx cerebri Global developmental delay Spinal cord compression Syringomyelia Abnormality of the respiratory system Recurrent pneumonia [ncbi.nlm.nih.gov]

Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. [ncbi.nlm.nih.gov]

Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. [ncbi.nlm.nih.gov]

Joubert Syndrome Type 1

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

Infants with respiratory abnormalities should be closely monitored. [news-medical.net]

and respiratory abnormalities in early infancy. [jamanetwork.com]

Joubert Syndrome Type 14

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

Infants with respiratory abnormalities should be closely monitored. [news-medical.net]

From the first publications, respiratory abnormalities were characterized by attacks of tachypnea alternating with respiratory pauses; hyperpnea-apnea episodes or episodic [dovepress.com]

Thanatophoric Dysplasia Type 1

Hydrocephalus Intellectual disability, profound Abnormality of the respiratory system Neonatal respiratory distress Pulmonary hypoplasia Growth abnormality Disproportionate [ncbi.nlm.nih.gov]

[…] formed scapulae Small foramen magnum Thoracic hypoplasia Wide-cupped costochondral junctions Abnormality of the nervous system Global developmental delay Gray matter heterotopia [ncbi.nlm.nih.gov]

Hypoplastic pelvis Hypotonia Macrocephaly Metaphyseal irregularity Narrow chest Platyspondyly Severe platyspondyly Short greater sciatic notch Short long bone Short ribs Small abnormally [ncbi.nlm.nih.gov]

Joubert Syndrome Type 13

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

She exhibited a flat nasal root (Figure 2A), but no oral or digital abnormalities. She had no apparent history of respiratory failure or dizziness at age 62 years. [ng.neurology.org]

Clinical Features Joubert syndrome (JS) (OMIM 213300) is marked by ataxia, hypotonia, abnormal eye movements, apraxia, neonatal respiratory anomalies, mental retardation, [preventiongenetics.com]

Joubert Syndrome Type 7

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

In patient 2, Joubert syndrome was suspected in the neonatal period in view of respiratory abnormalities and facial phenotype. [ajnr.org]

It is seen in the neonatal period, as a complicated disease with respiratory abnormalities characterized by tachypnea-apnea episodes and cerebellar vermis disorders, and occasionally [oatext.com]

Joubert Syndrome

Infants with respiratory abnormalities should be closely monitored. [news-medical.net]

In most cases, these respiratory abnormalities resolve spontaneously in the first months or years of life. [ojrd.biomedcentral.com]

The syndrome is often associated with intellectual disability, altered respiratory pattern in the neonatal period, and abnormal ocular movements. 3 – 5, 8 Primary position [dovepress.com]

Respiratory Acidosis

Medical Definition of respiratory acidosis : acidosis that is caused by excessive retention of carbon dioxide due to a respiratory abnormality (as obstructive lung disease [merriam-webster.com]

Learn More about respiratory acidosis Resources for respiratory acidosis Comments on respiratory acidosis What made you want to look up respiratory acidosis ? [merriam-webster.com]

X-Linked Mental Retardation Type Lubs

[…] of the respiratory system Recurrent respiratory infections Ear malformation Low-set ears Macrotia Growth abnormality Decreased body weight IMPORTANT NOTE: NIH does not independently [ncbi.nlm.nih.gov]

[…] insensitivity Poor eye contact Progressive spasticity Repetitive compulsive behavior Seizure Severe global developmental delay Sleep disturbance Status epilepticus Tonic seizure Abnormality [ncbi.nlm.nih.gov]