Ventricular septal defect, and Spina bifida

Diseases related with Ventricular septal defect and Spina bifida

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


Top matches:

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Low 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

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

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Other less relevant matches:

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Low match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low 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

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Low match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Low match CEREBROCOSTOMANDIBULAR SYNDROME


Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Spina bifida

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Spina bifida occulta Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Abnormal heart morphology Short stature Conductive hearing impairment Sensorineural hearing impairment Atrial septal defect Low-set ears Meningocele Midface retrusion Renal agenesis Horseshoe kidney Ectopic kidney Epicanthus Abnormal facial shape Strabismus Transposition of the great arteries Anal stenosis Scoliosis High palate Pierre-Robin sequence Long philtrum Intestinal malrotation Talipes Clinodactyly of the 5th finger Renal cyst Polydactyly Micrognathia Patent ductus arteriosus Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Anteverted nares Short nose Delayed skeletal maturation Arthralgia Webbed neck Kyphosis Abnormality of the ribs Malar flattening Glossoptosis Abnormality of the pinna Omphalocele Osteoarthritis Joint stiffness Pes planus Fused cervical vertebrae Downslanted palpebral fissures 11 pairs of ribs Talipes equinovarus Myopia Coloboma Abnormality of the kidney Sandal gap Thin upper lip vermilion Generalized hypotonia Retinal coloboma Posteriorly rotated ears Global developmental delay Renal malrotation Intellectual disability Short 5th metacarpal Short humerus Diabetes mellitus Microcephaly Facial asymmetry Renal dysplasia Bulbous nose Pulmonic stenosis Vesicoureteral reflux Situs inversus totalis Holoprosencephaly Hypoplasia of the radius Myelomeningocele Arrhythmia Occipital encephalocele Failure to thrive Encephalocele Mitral atresia Syndactyly Cognitive impairment Hydronephrosis Postaxial polydactyly Microphthalmia Syringomyelia Duane anomaly Depressed nasal ridge Wide nose Abnormality of the metaphysis Abnormal form of the vertebral bodies Toe syndactyly Short phalanx of finger Rhizomelia Recurrent pneumonia Craniosynostosis Short long bone Prominent supraorbital ridges Small for gestational age Epiphyseal dysplasia Mixed hearing impairment Abnormal joint morphology Disproportionate short stature Telecanthus Synostosis of carpal bones Abnormal cardiac septum morphology Joint laxity Flared metaphysis Flexion contracture Lumbar hyperlordosis Hyperlordosis Pelvic kidney Depressed nasal bridge Lop ear Peripheral pulmonary artery stenosis Labial hypoplasia Bicornuate uterus Proptosis Muscular hypotonia of the trunk Rectovaginal fistula Feeding difficulties in infancy Eyelid coloboma Pulmonary artery stenosis Narrow nose Platyspondyly Retinal dystrophy Micromelia Short palm Retinal detachment Short metacarpal Macular dystrophy Clitoral hypertrophy Otitis media Bicuspid aortic valve Abnormality of the skin Aortic regurgitation 4-5 toe syndactyly Single transverse palmar crease Limb undergrowth Broad nasal tip Short thumb Vitreoretinopathy Polyhydramnios Congenital hip dislocation Elbow flexion contracture Cerebral calcification Narrow chest Cough Postnatal growth retardation Gastroesophageal reflux Hypospadias Atresia of the external auditory canal Abnormality of the dentition Edema Respiratory distress Feeding difficulties Growth delay Upper limb muscle hypoplasia Slit-like opening of the exterior auditory meatus Multicystic kidney dysplasia Nasal speech Palpebral fissure narrowing on adduction Short hard palate Rib gap Posterior rib gap Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Anomalous tracheal cartilage Absent soft palate Absent uvula Mandibular aplasia Neonatal respiratory distress Hydranencephaly Porencephalic cyst Cleft soft palate Missing ribs Bell-shaped thorax Tracheomalacia Anteriorly placed anus Thoracic hypoplasia Pectoralis hypoplasia Impaired convergence Beaking of vertebral bodies Cataract Renal hypoplasia Bilateral sensorineural hearing impairment Microcornea Iris coloboma Facial palsy Dilatation Ptosis Aplasia/Hypoplasia of the capital femoral epiphysis Aganglionic megacolon Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Coronal cleft vertebrae Enlarged joints Choanal atresia Abnormal dermatoglyphics Impaired ocular abduction Small thenar eminence Impaired ocular adduction Unilateral deafness Radial deviation of the hand Aplasia of metacarpal bones Hemifacial hypoplasia Crossed fused renal ectopia Optic disc hypoplasia Abnormality of the nasopharynx Abnormality of the urinary system Bladder diverticulum Choanal stenosis Absent radius Absent thumb Hypoplasia of the ulna Preaxial hand polydactyly Triphalangeal thumb Preaxial polydactyly Renal insufficiency Abnormality of the genitourinary system Wide nasal bridge Ectopic anus Cervical C2/C3 vertebral fusion Aplasia of the ulna Congenital muscular torticollis Abnormal sacrum morphology Abnormality of the shoulder Short sternum Abnormal cranial nerve morphology Decreased cervical spine mobility Sprengel anomaly Abnormality of the vertebral column Vertebral fusion Hemiplegia/hemiparesis Renal hypoplasia/aplasia Low posterior hairline Abnormal vertebral segmentation and fusion Limited neck range of motion Flat face Thick vermilion border Tall stature Mitral valve prolapse Overgrowth Round face Macroglossia Neutropenia Astigmatism Neoplasm Protruding ear Deeply set eye Macrotia Inguinal hernia Hernia Intellectual disability, mild Macrocephaly Wide intermamillary distance Cleft upper lip Large hands Bile duct proliferation Oligohydramnios Dyskinesia Respiratory tract infection Recurrent respiratory infections Cerebellar hypoplasia Meningoencephalocele Agenesis of cerebellar vermis Dextrocardia Anencephaly Molar tooth sign on MRI Bowing of the long bones Postaxial hand polydactyly Dandy-Walker malformation Hydrocephalus Hypoplasia of the corpus callosum Cardiomegaly Ciliary dyskinesia Cleft lip Common atrium Abnormality of cardiovascular system morphology Short neck Posteriorly placed anus Dextrotransposition of the great arteries Pulmonary artery hypoplasia Single ventricle Biliary atresia Abnormal lung lobation Heterotaxy Abdominal situs inversus Pulmonary artery atresia Duodenal atresia Asplenia Polysplenia Double outlet right ventricle Nephroblastoma Bowing of the legs Seizures Abnormality of tibia morphology Teratoma Deviation of finger Urinary retention Abnormality of the knee Neurogenic bladder Abnormal cortical bone morphology Chronic constipation Spinal deformities Maternal diabetes Abnormality of the skull Lipoma Joint swelling Hyperostosis Tracheoesophageal fistula Back pain Bladder exstrophy Lower limb undergrowth Meningitis Sacral meningocele Hydromyelia Presacral teratoma Anterior sacral meningocele Hemisacrum Cloacal exstrophy Rectal fistula Sacral lipoma Mottled pigmentation Sirenomelia Dermoid cyst Exstrophy Rectal abscess Absence of the sacrum Clubbing of toes Cyclopia Type I diabetes mellitus Large fontanelles Large for gestational age Osteopenia Everted lower lip vermilion Tachycardia Synophrys Broad forehead Apnea Low-set, posteriorly rotated ears Clinodactyly Palpitations Pectus excavatum Brachydactyly Bifid ureter Long hallux Varicose veins Long foot Enlarged kidney Narrow forehead Dental crowding Eczema Anterior open bite Urinary incontinence Arthritis Constipation Headache Paroxysmal supraventricular tachycardia Prominent sternum Perimembranous ventricular septal defect Short toe Spondylolisthesis Wolff-Parkinson-White syndrome Supraventricular tachycardia Obstructive sleep apnea Proportionate short stature Sleep apnea Infantile muscular hypotonia Paradoxical respiration



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