Abnormality of the skeletal system, and Situs inversus totalis

Diseases related with Abnormality of the skeletal system and Situs inversus totalis

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


Top matches:

Low match ATRIAL SEPTAL DEFECT 2; ASD2


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: MESH OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 2; ASD2

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 NEPHRONOPHTHISIS 14; NPHP14


Related symptoms:

  • Abnormality of the kidney
  • Retinal degeneration
  • Cerebellar vermis hypoplasia
  • Situs inversus totalis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 14; NPHP14

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Other less relevant matches:

Low match CILIARY DYSKINESIA, PRIMARY, 32; CILD32


Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 32; CILD32 Is also known as ciliary dyskinesia, primary, 32, without situs inversus

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 32; CILD32

Low match SITUS INVERSUS TOTALIS


Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

SITUS INVERSUS TOTALIS Is also known as complete situs inversus|complete situs inversus viscerum|situs inversus viscerum|siv|situs inversus

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SITUS INVERSUS TOTALIS

Low match NEPHRONOPHTHISIS 16; NPHP16


Related symptoms:

  • Cardiomyopathy
  • Renal insufficiency
  • Patent ductus arteriosus
  • Hypertrophic cardiomyopathy
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 16; NPHP16

Low match HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8


Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Situs inversus totalis
  • Hypoplastic left heart
  • Atrioventricular canal defect
  • Transposition of the great arteries


SOURCES: OMIM MENDELIAN

More info about HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8

Low match CILIARY DYSKINESIA, PRIMARY, 35; CILD35


Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 35; CILD35 Is also known as ciliary dyskinesia, primary, 35, with or without situs inversus

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 35; CILD35

Low match CILIARY DYSKINESIA, PRIMARY, 29; CILD29


Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 29; CILD29 Is also known as ciliary dyskinesia, primary, 29, without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 29; CILD29

Low match CILIARY DYSKINESIA, PRIMARY, 6; CILD6


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 6; CILD6

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Situs inversus totalis

Symptoms // Phenotype % cases
Dyskinesia Common - Between 50% and 80% cases
Ciliary dyskinesia Common - Between 50% and 80% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Bronchiectasis Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Rare Symptoms - Less than 30% cases


Nephronophthisis Sinusitis Atrial septal defect Chronic sinusitis Heterotaxy Abdominal situs inversus Transposition of the great arteries Immotile cilia Infertility Polycystic kidney dysplasia Abnormality of the kidney Abnormal heart morphology Atrioventricular canal defect Dextrocardia Recurrent sinusitis Rhinitis Unbalanced atrioventricular canal defect Atrial situs ambiguous Pneumonia Cough Abnormal ciliary motility Recurrent pneumonia Recurrent otitis media Absent outer dynein arms Otitis media Chronic rhinitis Recurrent lower respiratory tract infections Atelectasis Nasal polyposis Abnormal respiratory motile cilium morphology Productive cough Atrial flutter Congenitally corrected transposition of the great arteries Hypertrophic cardiomyopathy Pulmonary artery atresia Abnormality of the respiratory system Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Akinesia Retinal degeneration Cerebellar vermis hypoplasia Congenital blindness Respiratory distress Neonatal respiratory distress Intrauterine growth retardation Cardiomyopathy Double outlet right ventricle Renal insufficiency Patent ductus arteriosus Pulmonic stenosis Renal cyst Cholestasis Hepatic fibrosis Aortic valve stenosis Enlarged kidney Hypoplastic left heart Absent/shortened outer dynein arms



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