Ventricular septal defect, and Hypodontia

Diseases related with Ventricular septal defect and Hypodontia

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


Top matches:

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

High match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

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 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

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 FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI 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

Medium match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Medium match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Hypodontia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Syndactyly

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cleft upper lip Intellectual disability Downslanted palpebral fissures Clinodactyly Hypospadias Growth delay Ptosis Anteverted nares Polydactyly Supernumerary nipple Hernia Failure to thrive Abnormality of the dentition Severe short stature Brachydactyly Ambiguous genitalia Micrognathia Hearing impairment Abnormal heart morphology Pectus excavatum Alopecia Cleft lip Sparse hair Pectus carinatum Hypoplasia of the maxilla Ectodermal dysplasia Fine hair Pain Microdontia Inguinal hernia Camptodactyly Micropenis Frontal bossing Delayed skeletal maturation Thin upper lip vermilion Widely spaced teeth Small nail Intrauterine growth retardation Abnormal facial shape Wide nose Toe syndactyly Hand polydactyly Abnormality of cardiovascular system morphology Depressed nasal bridge Low-set ears Patent ductus arteriosus Clinodactyly of the 5th finger High forehead Short nose Strabismus

Rare Symptoms - Less than 30% cases


Malar flattening Abnormality of the genital system Short middle phalanx of the 5th finger Protruding ear Round face Postaxial hand polydactyly Delayed puberty Short neck Nail dystrophy Limb undergrowth Hyperconvex nail Ankyloblepharon Long eyelashes Abdominal pain Single transverse palmar crease Long philtrum Pulmonic stenosis Widow's peak Hypoplastic toenails Mild short stature Shawl scrotum Radial deviation of finger Double outlet right ventricle Increased number of teeth Abnormality of the fingernails Intellectual disability, mild External genital hypoplasia Oral cleft Smooth philtrum Anal atresia Prominent forehead Posteriorly rotated ears Umbilical hernia Obesity Atrial septal defect Short philtrum Conical tooth Conductive hearing impairment Short palm Underdeveloped nasal alae Thick eyebrow Palmoplantar keratoderma Delayed eruption of teeth Hypotrichosis Finger syndactyly Narrow mouth Thin vermilion border Abnormality of the skeletal system Finger clinodactyly Coarse hair Skeletal dysplasia Proptosis Agenesis of permanent teeth Triangular mouth Recurrent otitis media Volvulus Short distal phalanx of finger Narrow nose Nail dysplasia Ectrodactyly Hypohidrosis Postaxial polydactyly Abnormality of the voice Hypoplastic labia majora Scoliosis Broad forehead Sparse eyelashes Anemia Pili torti Split hand Abnormality of dental enamel Seizures Abnormality of the wrist Inverted nipples Sparse lateral eyebrow Absent radius Abnormality of the uterus Wolff-Parkinson-White syndrome Gonadotropin deficiency Short clavicles Broad face Perimembranous ventricular septal defect Sprengel anomaly Abnormality of the clavicle Breast hypoplasia Sparse axillary hair Ectopic anus Supraventricular tachycardia Hypoplastic scapulae Abnormality of finger Wide nasal base Hyperhidrosis Anal stenosis Limb dystonia Narrow naris Anteverted ears Congenital microcephaly Cutaneous syndactyly of toes Broad columella Echolalia High anterior hairline Low hanging columella Limb hypertonia Cutaneous finger syndactyly Clinodactyly of the 5th toe Abnormality of digit Narrow nasal bridge Aphasia Dysphasia Short middle phalanx of finger Mutism Cutaneous syndactyly Short chin Generalized hirsutism Bilateral single transverse palmar creases Aplastic/hypoplastic toenail Enlarged epiphyses Oligodactyly Renal hypoplasia Hypoplastic nipples Short humerus Hyperthyroidism Decreased fertility Hypoplasia of the ulna Bifid scrotum Pyloric stenosis Laryngomalacia Hypoplasia of the radius Abnormality of the metacarpal bones Interphalangeal joint contracture of finger Frontal hirsutism Hypoplasia of penis Convex nasal ridge Growth hormone deficiency Tachycardia Camptodactyly of finger Mandibular prognathia Upslanted palpebral fissure Anterior pituitary hypoplasia Arrhythmia 2-4 toe syndactyly Abnormality of the humerus Joint hypermobility Breast aplasia Flat face Hemivertebrae Abnormal vertebral morphology Wide anterior fontanel Gingival overgrowth Dental crowding Broad thumb Dental malocclusion Macroglossia Small hand Confusion Delayed cranial suture closure Abnormal cardiac septum morphology Wide mouth Hydronephrosis Hepatosplenomegaly Retrognathia Midface retrusion Macrocephaly Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Disproportionate short-limb short stature Mesomelia Frontoparietal polymicrogyria Mesomelic short stature Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Thoracic hemivertebrae Aplasia/Hypoplasia involving the metacarpal bones Forearm undergrowth Broad toe Renal duplication Vertebral fusion Clitoral hypoplasia Delayed eruption of permanent teeth Normocytic anemia Vaginal atresia Rib fusion Bifid tongue Missing ribs Thoracolumbar scoliosis Nevus flammeus Long palpebral fissure Prominent umbilicus Osteochondritis Dissecans Gastroschisis Absent axillary hair Unilateral oligodactyly Axillary apocrine gland hypoplasia Deformed radius Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Abnormal external genitalia Hypertension Body odor Aplasia of the ulna Ectopic posterior pituitary Absent hand Abnormality of the radius Abnormality of temperature regulation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Flexion contracture Hepatomegaly Hyperextensibility of the finger joints Lymphedema Broad philtrum Large earlobe Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Macrocytic anemia Broad palm Interstitial pulmonary abnormality Increased intracranial pressure Generalized-onset seizure Behavioral abnormality Short foot Polymicrogyria Decreased body weight Cirrhosis Hypermetropia Attention deficit hyperactivity disorder Joint laxity Pes planus Hyperactivity Depressivity Postnatal microcephaly Atrioventricular canal defect Hypertrichosis Aspiration Right aortic arch Chylothorax Abnormality of the pharynx Pulmonary artery atresia Hydrocele testis Bilateral cleft lip and palate Aspiration pneumonia Bilateral cleft lip Prominent metopic ridge Large fontanelles Intestinal lymphangiectasia Recurrent urinary tract infections Congenital diaphragmatic hernia Intestinal malrotation Telecanthus Gastroesophageal reflux Agenesis of corpus callosum Pneumonia Respiratory insufficiency Dysphagia Abnormality of the nasopharynx Bladder exstrophy High palate Inflammatory abnormality of the skin Erythroderma Brittle hair Atresia of the external auditory canal Conjunctivitis Increased body weight Hoarse voice Sinusitis Hyperpigmentation of the skin Choanal atresia Otitis media Recurrent aspiration pneumonia Sepsis Microtia Scarring Abnormality of the nervous system Hyperkeratosis Feeding difficulties Posterior pharyngeal cleft Osteoma Exstrophy Epicanthus Sensorineural hearing impairment 2-3 toe syndactyly Depressed nasal ridge Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Persistence of primary teeth Prominent occiput Bicuspid aortic valve Coarctation of aorta Pulmonary hypoplasia Premature birth Broad nasal tip Sleep disturbance Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Craniosynostosis Congestive heart failure Myopia Distal/middle symphalangism of 5th finger Bifid uvula Decreased number of sweat glands Anhidrotic ectodermal dysplasia Progressive alopecia Small, conical teeth Submucous cleft soft palate Pili canaliculi Absent lacrimal punctum Hyperconvex fingernails Trichodysplasia Velopharyngeal insufficiency Hypohidrotic ectodermal dysplasia Cystic renal dysplasia Thin skin Dry hair Thick nail Dystrophic fingernails Dystrophic toenail Generalized hyperpigmentation Submucous cleft hard palate Non-midline cleft lip Sparse and thin eyebrow Renal dysplasia Hammertoe Anhidrosis Specific learning disability Abnormal oral mucosa morphology 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 Horizontal ribs Cone-shaped epiphyses of phalanges 2 to 5 Epispadias Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Upper limb undergrowth Abnormality of the alveolar ridges Generalized hypotonia Synostosis of carpal bones Intellectual disability, moderate Limitation of joint mobility Hirsutism Bulbous nose Paraplegia Synophrys Neurological speech impairment Small for gestational age Prominent nasal bridge Postnatal growth retardation Muscular hypotonia of the trunk Microcephaly Brachycephaly Dystonia Hypertonia Cerebellar atrophy Intellectual disability, severe Optic atrophy Visual impairment Spasticity Muscular hypotonia Foot polydactyly Abnormality of the ureter Anonychia Plantar hyperkeratosis Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Orthokeratosis Skin erosion Abnormality of the kidney Selective tooth agenesis Heat intolerance Trismus Chronic sinusitis Absent eyelashes Blepharitis Pustule Keratoconjunctivitis sicca Sparse body hair Talipes equinovarus Narrow chest Natal tooth Abnormality of pelvic girdle bone morphology Abnormal heart valve morphology Disproportionate short stature Short thorax Thoracic hypoplasia Hypoplastic left heart Hydroureter Dextrocardia Emphysema Cubitus valgus Short long bone Genu valgum Renal hypoplasia/aplasia Abnormality of the nail Short ribs Abnormality of the hair Situs inversus totalis Heterotopia Dandy-Walker malformation Renal agenesis Micromelia Cervical agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Situs inversus totalis, related diseases and genetic alterations

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