Ventricular septal defect, and Renal agenesis

Diseases related with Ventricular septal defect and Renal agenesis

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Renal agenesis that can help you solving undiagnosed cases.


Top matches:

Medium match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Medium match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Medium match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

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Other less relevant matches:

Medium match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('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. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Medium match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match RITSCHER-SCHINZEL SYNDROME 2; RTSC2


Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Medium match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Medium match SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME


This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Medium match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Renal agenesis

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Renal agenesis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Global developmental delay Growth delay Intellectual disability Patent ductus arteriosus Hypertelorism Unilateral renal agenesis Intestinal malrotation Abnormality of the pinna Abnormal heart morphology Epicanthus Scoliosis Oligohydramnios Hypospadias Broad nasal tip Pulmonary hypoplasia Generalized hypotonia Abnormal cardiac septum morphology Low-set ears

Rare Symptoms - Less than 30% cases


Cleft upper lip Syndactyly Low posterior hairline Abnormality of the genitourinary system Telecanthus Abnormality of the skeletal system Conductive hearing impairment Short philtrum Talipes Craniosynostosis Macrocephaly Relative macrocephaly Blepharophimosis High palate Camptodactyly Short stature Mitral atresia Clinodactyly of the 5th finger Microcephaly Overlapping toe Seizures Myopia Horseshoe kidney Hernia Broad forehead Upslanted palpebral fissure Deeply set eye Cerebellar hypoplasia Clinodactyly Bilateral lung agenesis Oral cleft Pulmonary artery stenosis Congenital diaphragmatic hernia Scrotal hypoplasia Hydronephrosis Micropenis Cleft lip Pulmonic stenosis Abnormality of cardiovascular system morphology Intrauterine growth retardation Bifid scrotum Broad foot Bilateral cleft lip Brachycephaly Irregular vertebral endplates Shawl scrotum Hypogonadism Facial cleft Low-set, posteriorly rotated ears Hyperactivity Aggressive behavior Diastasis recti Autistic behavior Synophrys Joint hypermobility Tetralogy of Fallot Stereotypy Drooling Precocious puberty Short 5th finger Cognitive impairment Absent speech Strabismus Poor speech Short distal phalanx of finger Convex nasal ridge Dandy-Walker malformation Wide anterior fontanel Broad hallux Protruding tongue Arachnoid cyst Broad neck Urethral valve Feeding difficulties Bilateral cleft lip and palate Brachydactyly Downslanted palpebral fissures Frontal bossing Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Neurodevelopmental delay Bilateral conductive hearing impairment Talipes equinovarus 2-3 toe syndactyly Echolalia Gonadal dysgenesis Muscular hypotonia of the trunk Omphalocele Highly arched eyebrow Small hand Postnatal growth retardation Anal stenosis Syringomyelia Narrow nose Abnormality of the kidney Intellectual disability, moderate Eyelid coloboma Rectovaginal fistula Umbilical hernia Ectopic kidney Bicornuate uterus Depressivity Labial hypoplasia Congestive heart failure Edema Peripheral pulmonary artery stenosis Duane anomaly Lop ear Pelvic kidney 4-5 toe syndactyly Micrognathia Macular dystrophy Clitoral hypertrophy Ptosis Joint laxity Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Supernumerary nipple Wide nasal bridge Renal insufficiency Elbow dislocation Thin upper lip vermilion Epiphyseal dysplasia Radioulnar synostosis Preaxial polydactyly Wormian bones Small for gestational age Toe syndactyly Spontaneous abortion Bulbous nose Wide nose Retinal dystrophy Single transverse palmar crease Vesicoureteral reflux Spina bifida Spina bifida occulta Aortic regurgitation Bicuspid aortic valve Hypoplasia of the radius Retrognathia Thin lower lip vermilion Urethral fistula Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Unilateral renal hypoplasia Fetal pyelectasis Rectal fistula Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Sensorineural hearing impairment Urogenital sinus anomaly Short neck Microtia Facial asymmetry Webbed neck Otitis media Abnormality of the ribs Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Bilateral renal agenesis Ambiguous genitalia, male Stiff neck Hypoplasia of penis Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Malrotation of small bowel Adrenal gland agenesis Depressed nasal bridge Short nose Abnormality of metabolism/homeostasis Posteriorly rotated ears Ambiguous genitalia Perineal hypospadias Gynecomastia Abnormality of the hair Abnormality of the voice Tracheoesophageal fistula Bilateral talipes equinovarus Hydroureter Decreased fertility Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Fused cervical vertebrae Bimanual synkinesia Muscular ventricular septal defect Dental malocclusion Heterotaxy Biliary atresia Common atrium Single ventricle Pulmonary artery hypoplasia Dextrotransposition of the great arteries Posteriorly placed anus Abnormality of the dentition Intellectual disability, mild High forehead Carious teeth Short palpebral fissure Pulmonary artery atresia Recurrent urinary tract infections Pointed chin Premature ovarian insufficiency Long nose Low hanging columella Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Velopharyngeal insufficiency Endometriosis Left-to-right shunt Abdominal situs inversus Duodenal atresia Posterior fossa cyst Recurrent respiratory infections Congenital muscular torticollis Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis Failure to thrive Arrhythmia Respiratory tract infection Asplenia Dyskinesia Cardiomegaly Situs inversus totalis Holoprosencephaly Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abnormal lung lobation Double outlet right ventricle Myelomeningocele Polysplenia Prominent coccyx



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