Feeding difficulties, and Cyanosis

Diseases related with Feeding difficulties and Cyanosis

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Cyanosis that can help you solving undiagnosed cases.

Top matches:

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

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

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.

PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA Is also known as phsh|hypomagnesemic tetany|hsh|homg|hypomagnesemia with secondary hypocalcemia|intestinal hypomagnesemia with secondary hypocalcemia|hypomagnesemia caused by selective magnesium malabsorption|homg1|hypomagnesemia, intestinal, with secondary hypocalcemia|h

Related symptoms:

  • Intellectual disability
  • Seizures
  • Feeding difficulties
  • Tremor
  • Diarrhea


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

Other less relevant matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Medium match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Cyanosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Apnea Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Muscular hypotonia Global developmental delay Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Constipation Paralysis Failure to thrive

Rare Symptoms - Less than 30% cases

Tremor Chronic diarrhea Babinski sign Hyperkinesis Hypercalciuria Hyperhidrosis Dyspnea Calcinosis Strabismus Ptosis Hyperreflexia Rigidity Aciduria Respiratory tract infection Abnormal autonomic nervous system physiology Hepatomegaly Agitation Hypothermia Hashimoto thyroiditis Hypertonia Microcephaly Acrocyanosis Heterotopia Muscle weakness Stridor Ataxia Nystagmus Muscle stiffness Feeding difficulties in infancy Dysphagia Fatigue Weak cry Clonus Pain Decreased CSF homovanillic acid Athetosis Leukodystrophy Cardiac arrest Metaphyseal irregularity Drooling Emotional lability Intermittent hypothermia Temperature instability Vitreomacular adhesion Hypokinesia Orthostatic hypotension Limb dystonia Choreoathetosis Insomnia Limb hypertonia Polydipsia Miosis Nasal obstruction Abnormality of the face Motor delay Polyuria Gastroesophageal reflux Dystonia Abnormality of calcium-phosphate metabolism Parathyroid hyperplasia Cerebral atrophy Parathyroid adenoma Low-set ears Primary hyperparathyroidism Hyperphosphaturia Elevated circulating parathyroid hormone level Myoclonus Neoplasm of the endocrine system Hypophosphatemia Hypoglycemia Irritability Lethargy Abnormality of eye movement Thyroiditis Sleep disturbance Chorea Syncope Hypotension Abnormality of the thyroid gland Hyperparathyroidism Increased body weight Cognitive impairment Pallor Hypercapnia High palate Delayed speech and language development Visual impairment Epicanthus Cerebellar atrophy Long philtrum Absent speech Clinodactyly Clinodactyly of the 5th finger Cerebellar hypoplasia Brachycephaly Gait ataxia Dysmetria Ganglioneuroblastoma Thin vermilion border Flat face Abnormal cerebellum morphology Broad-based gait Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Focal impaired awareness seizure Oral-pharyngeal dysphagia Ankle clonus Delayed ability to walk Broad face Titubation Abnormality of the autonomic nervous system Ganglioneuroma Downslanted palpebral fissures Polyphagia Respiratory insufficiency Short nose Obesity Depressivity Posteriorly rotated ears Anxiety Low-set, posteriorly rotated ears Postural instability Abnormality of the cardiovascular system Abnormal lung morphology Aganglionic megacolon Tachypnea Sleep apnea Neuroblastoma Snoring Polycythemia Hypoventilation Abnormality of the mouth Obstructive sleep apnea Cardiorespiratory arrest Chronic constipation Abnormality of the endocrine system Chronic lung disease Hypoxemia Abnormal pupil morphology Central hypoventilation Neoplasm of the central nervous system Abnormality of temperature regulation Triangular mouth Hypercalcemia Abnormality of extrapyramidal motor function Aminoaciduria Paresthesia Tetany Hypocalciuria Muscle spasm Hearing impairment Dysarthria Respiratory distress Respiratory failure Polyhydramnios Proximal muscle weakness Autoimmunity Arthrogryposis multiplex congenita Ophthalmoplegia Hemolytic anemia Restlessness Tapered finger Generalized muscle weakness Hepatitis Psychosis Diplopia Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ophthalmoparesis Hypomagnesemia Steatorrhea Glycosuria Agenesis of corpus callosum Elevated serum creatine phosphokinase Myalgia Bradycardia Myotonia Skeletal muscle hypertrophy Periodic paralysis Respiratory arrest Laryngospasm Apneic episodes in infancy Spasticity Hydrocephalus Headache Limb muscle weakness Nephrocalcinosis Spina bifida Arnold-Chiari malformation Opisthotonus Partial agenesis of the corpus callosum Syringomyelia Myelomeningocele Bulbar signs Inspiratory stridor Cervical myelopathy Occipital neuralgia Arrhythmia Malabsorption Hypocalcemia Bulbar palsy Abnormality of the immune system Abnormality of the metaphysis Arnold-Chiari type I malformation Posterior embryotoxon Delayed closure of the anterior fontanelle Dicarboxylic aciduria Neonatal hyperbilirubinemia Abnormality of the nasal bridge Encephalopathy Acidosis Developmental regression Lactic acidosis Increased serum lactate Neurodevelopmental delay Petechiae Abnormality of the retinal vasculature Abnormality of neuronal migration Episodic ataxia Ecchymosis Tethered cord Cytochrome C oxidase-negative muscle fibers Focal T2 hyperintense basal ganglia lesion Ethylmalonic aciduria Short stature Neoplasm Anemia Splenomegaly Narrow chest Recurrent fractures Central hypotonia Flat occiput Hyperthyroidism Acetylcholine receptor antibody positivity Fatigable weakness Primary adrenal insufficiency Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Generalized hypotonia due to defect at the neuromuscular junction Hyperbilirubinemia Muscle specific kinase antibody positivity Single fiber EMG abnormality Micrognathia Wide nasal bridge High forehead Jaundice Abnormality of the nervous system Abnormality of the eye Dolichocephaly Polymicrogyria Triangular face Cholestasis Large fontanelles Truncal titubation


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