Abnormality of the skeletal system, and Apnea

Diseases related with Abnormality of the skeletal system and Apnea

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Apnea that can help you solving undiagnosed cases.


Top matches:

Low match BUTYRYLCHOLINESTERASE DEFICIENCY


Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.

BUTYRYLCHOLINESTERASE DEFICIENCY Is also known as pseudocholinesterase deficiency|acholinesterasemia

Related symptoms:

  • Apnea
  • Malnutrition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUTYRYLCHOLINESTERASE DEFICIENCY

Low match HYPEREKPLEXIA 3; HKPX3


Related symptoms:

  • Hypertonia
  • Apnea
  • Muscle stiffness
  • Exaggerated startle response


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 3; HKPX3

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3


Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

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Other less relevant matches:

Low match INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY


Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY Is also known as pulmonary alveolar proteinosis, congenital, 3|interstitial lung disease due to abca3 deficiency|interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Patent ductus arteriosus
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY

Low match JOUBERT SYNDROME 23; JBTS23


Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Polydactyly
  • Apnea
  • Abnormality of the eye
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 23; JBTS23

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Low match SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1


Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Low match NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO


NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Is also known as naion, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to

Related symptoms:

  • Peripheral neuropathy
  • Visual loss
  • Apnea
  • Hypercholesterolemia
  • Sleep apnea


SOURCES: OMIM MENDELIAN

More info about NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO

Low match KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY


KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY Is also known as saposin a deficiency

Related symptoms:

  • Respiratory insufficiency
  • Hypertonia
  • Hyporeflexia
  • Respiratory failure
  • Apnea


SOURCES: OMIM MESH MENDELIAN

More info about KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

Low match FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY


Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY Is also known as mfm, fatal infantile hypertonic, alpha-b crystallin-related

Related symptoms:

  • Seizures
  • Flexion contracture
  • Respiratory insufficiency
  • Myopathy
  • Hypertonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Apnea

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
Muscle stiffness Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Focal seizures, afebril Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Apnea. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Tachypnea Normal interictal EEG Cyanosis Focal-onset seizure Involuntary movements Fever Global developmental delay Febrile seizures Nonarteritic anterior ischemic optic neuropathy Generalized tonic-clonic seizures Exercise-induced myalgia Myokymia Motor delay Abnormality of the nervous system Peripheral neuropathy Myalgia Visual loss Hypercholesterolemia Sleep apnea Optic neuropathy Drusen Myoclonus Focal clonic seizures Global brain atrophy Optic disc drusen Rapid neurologic deterioration Weak cry Muscular dystrophy Rigidity Elevated serum creatine phosphokinase Myopathy Flexion contracture Cerebral dysmyelination Hyporeflexia Vegetative state Central apnea Increased CSF protein Paroxysmal dystonia Progressive neurologic deterioration Brain atrophy Paroxysmal choreoathetosis Dyskinesia Paroxysmal dyskinesia Respiratory distress Interstitial pneumonitis Hypoxemia Chronic lung disease Neonatal respiratory distress Abnormal lung morphology Patent ductus arteriosus Hypertension Desquamative interstitial pneumonitis Failure to thrive Generalized tonic-clonic seizures with focal onset Atonic seizures Muscle fibrillation Focal impaired awareness seizure Exaggerated startle response Alveolar proteinosis Polydactyly Writer's cramp Dystonia Stereotypy Choreoathetosis Generalized-onset seizure Migraine Malnutrition Anxiety Ataxia Abnormality of the eye Dysplastic corpus callosum Cerebellar dysplasia Breathing dysregulation Molar tooth sign on MRI Heterotopia Abnormality of eye movement Coloboma Myofibrillar myopathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Generalized myoclonic seizures, related diseases and genetic alterations

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