Abnormality of the skeletal system, and Abnormal cardiac septum morphology

Diseases related with Abnormality of the skeletal system and Abnormal cardiac septum morphology

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


Top matches:

Low match ATRIAL SEPTAL DEFECT 8; ASD8


Related symptoms:

  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 8; ASD8

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

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Other less relevant 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 ATRIAL SEPTAL DEFECT 6; ASD6


Related symptoms:

  • Atrial septal defect
  • Atrial fibrillation
  • Bradycardia


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 6; ASD6

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match ATRIAL SEPTAL DEFECT 3; ASD3


Related symptoms:

  • Atrial septal defect
  • Secundum atrial septal defect


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 3; ASD3

Low match ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4


The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (OMIM ), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (OMIM ) (summary by Carmi et al., 1992).For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4

Low match ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5


The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (OMIM ), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (OMIM ) (summary by Carmi et al., 1992).For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5

Low match AUTISM, SUSCEPTIBILITY TO, 15; AUTS15


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Atrial septal defect
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Abnormal cardiac septum morphology

Symptoms // Phenotype % cases
Atrial septal defect Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Atrioventricular canal defect Uncommon - Between 30% and 50% cases
Primum atrial septal defect Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Abnormal cardiac septum morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Complete atrioventricular canal defect Ventricular septal defect Autistic behavior Intellectual disability Hypermetropia Patent ductus arteriosus Secundum atrial septal defect Thin vermilion border Coarctation of aorta Feeding difficulties Muscular ventricular septal defect Abnormality of the dentition Microcephaly Cryptorchidism Cleft palate Strabismus Generalized hypotonia Short stature Global developmental delay Bradycardia Atrial fibrillation Dextrocardia Truncus arteriosus Congestive heart failure Autism



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