Abnormality of the skeletal system, and Dyskinesia

Diseases related with Abnormality of the skeletal system and Dyskinesia

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


Top matches:

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5


Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

Related symptoms:

  • Seizures
  • Dystonia
  • Generalized tonic-clonic seizures
  • Dyskinesia
  • Choreoathetosis


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

Low match SPERMATOGENIC FAILURE 27; SPGF27


Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 27; SPGF27

Low match SPERMATOGENIC FAILURE 20; SPGF20


Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 20; SPGF20

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Other less relevant matches:

Low match SPERMATOGENIC FAILURE 18; SPGF18


Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Male infertility


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 18; SPGF18

Low match SPERMATOGENIC FAILURE 19; SPGF19


Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Reduced sperm motility


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 19; SPGF19

Low match CILIARY DYSKINESIA, PRIMARY, 3; CILD3


Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).

CILIARY DYSKINESIA, PRIMARY, 3; CILD3 Is also known as ciliary dyskinesia, primary, 3, with or without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Dyskinesia
  • Situs inversus totalis
  • Akinesia
  • Ciliary dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 3; CILD3

Low match PARKINSON DISEASE 17; PARK17


Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Low match CILIARY DYSKINESIA, PRIMARY, 34; CILD34


Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 34; CILD34 Is also known as ciliary dyskinesia, primary, 34, without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Bronchiectasis


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 34; CILD34

Low match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5


ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 Is also known as arrhythmogenic right ventricular cardiomyopathy 5|arvc5

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dilated cardiomyopathy
  • Dyskinesia
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

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

Symptoms // Phenotype % cases
Ciliary dyskinesia Common - Between 50% and 80% cases
Infertility Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Dystonia Rare - less than 30% cases
Akinesia Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Intellectual disability Generalized tonic-clonic seizures Hyperactivity Right ventricular cardiomyopathy Sudden cardiac death Syncope Palpitations Ventricular tachycardia Abnormal EKG Ventricular extrasystoles Prolonged QRS complex Encephalopathy Presyncope Global developmental delay Generalized hypotonia Dilated cardiomyopathy Epileptic encephalopathy Ataxia Febrile seizures Cognitive impairment Chest pain Respiratory tract infection Congestive heart failure Rigidity Choreoathetosis Paroxysmal choreoathetosis Shivering Male infertility Reduced sperm motility Situs inversus totalis Tremor Hyperhidrosis Postural instability Cardiomyopathy Parkinsonism Memory impairment Bradykinesia Schizophrenia Resting tremor Lewy bodies Bronchiectasis Recurrent sinopulmonary infections Hypsarrhythmia



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