Ventricular septal defect, and Pectus carinatum

Diseases related with Ventricular septal defect and Pectus carinatum

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


Top matches:

Medium match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Medium match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

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Other less relevant matches:

Medium match MATTHEW-WOOD SYNDROME


Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match CONGENITAL CONTRACTURAL ARACHNODACTYLY


Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Medium match DESBUQUOIS SYNDROME


Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Medium match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Medium match ULNAR-MAMMARY SYNDROME


Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Pectus carinatum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Intestinal malrotation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Growth delay Intellectual disability Abnormality of cardiovascular system morphology Hernia Hypertelorism Generalized hypotonia Severe short stature Brachycephaly Scoliosis Talipes equinovarus Patent ductus arteriosus Pectus excavatum Anal atresia Abnormal facial shape Motor delay Abnormality of the genital system Camptodactyly Camptodactyly of finger Flexion contracture Dilatation Low-set ears Polydactyly Short neck Hypodontia Cleft upper lip Pes planus Abnormal cardiac septum morphology Respiratory insufficiency Mitral valve prolapse High palate Abnormality of the uterus Inguinal hernia Failure to thrive Narrow chest Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Micropenis Arachnodactyly Pulmonary artery atresia Kyphoscoliosis Congenital diaphragmatic hernia Ambiguous genitalia Dolichocephaly Oral cleft Arthrogryposis multiplex congenita Smooth philtrum Cleft lip Prominent forehead Patellar dislocation Hypospadias Proptosis Blue sclerae Arrhythmia Syndactyly Aortic root aneurysm Anteverted nares Frontal bossing Downslanted palpebral fissures Mitral regurgitation Wide nasal bridge Ectopia lentis Hypoplastic toenails Ptosis Hand polydactyly Broad face Macrocephaly Short long bone Short clavicles Abnormality of the dentition Hiatus hernia Global developmental delay Postaxial polydactyly Renal hypoplasia Pulmonary hypoplasia Round face Abnormality of the kidney Interphalangeal joint contracture of finger Abnormality of the fingernails Decreased muscle mass Respiratory distress Intrauterine growth retardation Short ribs Thoracic dysplasia Obesity Horizontal ribs Muscular hypotonia Micrognathia Clinodactyly Skeletal dysplasia Short distal phalanx of finger Joint laxity Accelerated skeletal maturation Kyphosis Vesicoureteral reflux Platyspondyly Osteopenia Posteriorly rotated ears Tetralogy of Fallot Microphthalmia Long philtrum Myopia Thin vermilion border Sensorineural hearing impairment Hearing impairment Hydroureter Decreased fertility Abnormality of the ureter Aplasia/Hypoplasia of the lungs Volvulus Joint hyperflexibility Recurrent urinary tract infections Hip dislocation Hydronephrosis Tracheoesophageal fistula Hirsutism Abnormality of the metaphysis Short metacarpal Laryngeal stenosis Abnormality of temperature regulation Single transverse palmar crease Small hand Thick vermilion border Flat face Vertigo Synophrys Hypotrichosis Abnormality of the radius Chest pain Postnatal growth retardation Short 5th toe Low-set, posteriorly rotated ears Glaucoma Clinodactyly of the 5th finger Broad thumb Coxa valga Short phalanx of finger Metaphyseal widening Abnormal eyelash morphology Gastroschisis Truncal obesity Short femoral neck Acne Elbow dislocation Epiphyseal dysplasia Axillary apocrine gland hypoplasia Subglottic stenosis Ectopic posterior pituitary Radioulnar synostosis Relative macrocephaly Deformed radius Broad eyebrow Long uvula Disproportionate short-limb short stature Talipes Aplasia/Hypoplasia of the ulna Coxa vara Absent hand Calf muscle hypoplasia Depressed nasal bridge Esophageal atresia Abnormally large globe Single umbilical artery Laryngeal web Megalocornea Aplasia of the pectoralis major muscle Scaphocephaly Aortic aneurysm Congenital contracture Clubbing Adducted thumb Distal arthrogryposis Hip contracture Ulnar deviation of finger Keratoconus Abnormality of the musculature Imperforate hymen Slender finger Short 4th toe Disproportionate tall stature Duodenal atresia Slender build Metatarsus adductus Lens subluxation Congenital kyphoscoliosis Abnormally folded helix Crumpled ear Aplasia of the ulna Bowing of the long bones Patellar subluxation Body odor Iridodonesis Bell-shaped thorax Bicuspid aortic valve Abnormal external genitalia Spinal deformities Hypoplasia of the musculature Interrupted aortic arch Absent axillary hair Hernia of the abdominal wall Abnormal vertebral morphology Elbow flexion contracture Knee flexion contracture Broad foot Abnormality of the femoral neck or head region Genu recurvatum Acute leukemia Hypoplasia of the ulna External genital hypoplasia Epispadias Hyperthyroidism Short humerus Hypoplastic nipples Abnormal hair quantity Abnormality of female internal genitalia Hypoplastic iliac wing Postaxial foot polydactyly Abnormal oral mucosa morphology Oligodactyly Anal stenosis Absent radius Upper limb undergrowth Foot polydactyly Synostosis of carpal bones Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Bifid scrotum Pyloric stenosis Joint stiffness Cone-shaped epiphyses of phalanges 2 to 5 Split hand Hypoplasia of penis Convex nasal ridge Growth hormone deficiency Wide nose Tachycardia Delayed puberty Mandibular prognathia Upslanted palpebral fissure Hyperhidrosis Abnormality of the alveolar ridges Laryngomalacia Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Hypoplasia of the radius Agenesis of permanent teeth Thoracic hypoplasia Broad ribs Genu valgum Dandy-Walker malformation Renal agenesis Perimembranous ventricular septal defect Nail dysplasia Breast hypoplasia Ectodermal dysplasia Delayed eruption of teeth Wide nasal base Abnormality of the humerus Micromelia Anterior pituitary hypoplasia Gonadotropin deficiency Nail dystrophy Delayed skeletal maturation Breast aplasia Abnormality of the skeletal system Strabismus Abnormality of the metacarpal bones Knee dislocation Advanced ossification of carpal bones Toe clinodactyly Aplasia/Hypoplasia of the abdominal wall musculature Microdontia Limb undergrowth Hypoplastic left heart Abnormality of the clavicle Dextrocardia Emphysema Mild short stature Shawl scrotum Cubitus valgus Inverted nipples Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Sprengel anomaly Abnormality of dental enamel Abnormality of finger Heterotopia Hypoplastic scapulae Abnormality of the wrist Abnormality of the nail Ectopic anus Supraventricular tachycardia Sparse axillary hair Abnormality of the hair Sparse lateral eyebrow Wolff-Parkinson-White syndrome Situs inversus totalis Short thorax Postaxial polysyndactyly of foot Abnormality of the pinna Abnormality of the antihelix Dysplastic aortic valve Aplasia/Hypoplasia of the lens Abnormality of the intervertebral disk Long toe Unilateral cryptorchidism Shield chest Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormal eyebrow morphology Epicanthus Posterior subcapsular cataract Thoracic kyphosis Iris hypopigmentation Subcapsular cataract Long fingers Preauricular pit Hemiplegia Increased susceptibility to fractures Hyperextensible skin Amblyopia Left hemiplegia Dysphagia Low posterior hairline Aspiration pneumonia Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of the pharynx Widow's peak Hydrocele testis Bilateral cleft lip and palate Bilateral cleft lip Pneumonia Double outlet right ventricle Prominent metopic ridge Increased number of teeth Abnormality of the voice Aspiration Large fontanelles Telecanthus Thin upper lip vermilion Gastroesophageal reflux Agenesis of corpus callosum Decreased body weight Lumbar hyperlordosis Osteoma Telangiectasia Miosis 11 pairs of ribs Xerostomia Vertebral segmentation defect Bilateral cryptorchidism Abnormality of the urinary system Cutis laxa Multicystic kidney dysplasia Hemivertebrae Congenital hip dislocation Epistaxis Urogenital sinus anomaly Abnormality of the ribs Oligohydramnios Decreased testicular size Abnormality of the skin Abdominal distention Ascites Recurrent respiratory infections Constipation Renal insufficiency Cognitive impairment Intestinal atresia Urethral stenosis Webbed neck Muscle weakness Retinal detachment Unsteady gait Congenital cataract Hyperlordosis Osteoporosis Visual loss Depressivity Visual impairment Spasticity Cataract Nystagmus Cervical ribs Aplasia of the musculature Aplasia of the abdominal wall musculature Dilatation of the bladder Congenital posterior urethral valve Fetal ascites Urethral obstruction Megacystis Abnormality of the bladder Prune belly Abdominal wall defect Exstrophy Posterior pharyngeal cleft Fatigue Polysyndactyly of hallux Bifid uvula Bruising susceptibility Joint hypermobility Long face Small for gestational age Neonatal hypotonia Retrognathia Hyporeflexia Midface retrusion Disproportionate shortening of the tibia Shortening of the tibia Overgrowth Pancreatic fibrosis Hypoplasia of the epiglottis Hamartoma of tongue Median cleft lip and palate Lateral clavicle hook Spondylometaphyseal dysplasia Abnormality of the larynx Dilation of lateral ventricles Short tibia Microglossia Syncope Osteoarthritis Mesomelia Aortic dissection Pain Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Spondylolisthesis Soft skin Tall stature Long palpebral fissure Celiac disease Abnormality of the sternum Reduced subcutaneous adipose tissue Cerebral hemorrhage Patent foramen ovale Atrioventricular block Aortic regurgitation Joint contracture of the hand Exotropia Median cleft lip Preaxial hand polydactyly Hypoplasia of the corpus callosum Anophthalmia Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Truncus arteriosus Hypoplasia of the uterus Rocker bottom foot Optic nerve hypoplasia Pelvic kidney Abnormality of the genitourinary system Horseshoe kidney Abnormal lung morphology Intellectual disability, profound Coarctation of aorta Bilateral sensorineural hearing impairment Pulmonic stenosis Blepharophimosis Protruding ear Respiratory failure Single ventricle Renal malrotation Tricuspid regurgitation Edema Polycystic kidney dysplasia Hepatic fibrosis Hydrops fetalis Pachygyria Cerebellar vermis hypoplasia Renal cyst Retinal dystrophy Astigmatism Hypermetropia Craniosynostosis Hydrocephalus Pulmonary artery hypoplasia Brachydactyly Delayed speech and language development Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Bilateral lung agenesis Unilateral oligodactyly



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