Ventricular septal defect, and Finger syndactyly

Diseases related with Ventricular septal defect and Finger syndactyly

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

Top matches:

Low match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

HOLT-ORAM SYNDROME Is also known as heart-hand syndrome type 1|atriodigital dysplasia type 1|hos

Related symptoms:

  • Scoliosis
  • Ventricular septal defect
  • Atrial septal defect
  • Kyphosis
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about HOLT-ORAM SYNDROME

Other less relevant matches:

BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

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

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

POSTAXIAL ACROFACIAL DYSOSTOSIS Is also known as genee-wiedemann syndrome|miller syndrome|mandibulfacial dysostosis with postaxial limb anomalies|postaxial acrodysostosis|poads|acrofacial dysostosis, genee-wiedmann type

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Strabismus
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about POSTAXIAL ACROFACIAL DYSOSTOSIS

Low match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Finger syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Syndactyly Patent ductus arteriosus Ptosis Generalized hypotonia Abnormality of cardiovascular system morphology Cryptorchidism Cleft palate Depressed nasal bridge Abnormal facial shape Clinodactyly Coloboma Hydronephrosis Protruding ear Abnormal heart morphology Abnormal cardiac septum morphology Atrial septal defect Tetralogy of Fallot Atrioventricular block Short neck Hypoplasia of the maxilla Arrhythmia Pectus excavatum Supernumerary nipple Downslanted palpebral fissures Global developmental delay Thin upper lip vermilion Muscular hypotonia Cleft lip Micrognathia Hearing impairment Finger clinodactyly Hypospadias Cutaneous syndactyly Everted lower lip vermilion Clinodactyly of the 5th finger Cutaneous finger syndactyly Thick eyebrow Prominent nasal bridge Micropenis

Rare Symptoms - Less than 30% cases

Conical tooth Aplasia/Hypoplasia of the thumb Bulbous nose Patent foramen ovale Non-midline cleft lip Iris coloboma Radioulnar synostosis Camptodactyly Hypermetropia Toe syndactyly Hip dislocation Wide anterior fontanel Abnormality of dental enamel Sparse and thin eyebrow Cognitive impairment Growth delay Cleft upper lip Sparse hair Abnormal dermatoglyphics Conductive hearing impairment High forehead Failure to thrive Cutaneous syndactyly of toes Sprengel anomaly Hypoplasia of the radius Proptosis Frontal bossing Short nose Long philtrum Hernia Hypoplastic left heart Abnormality of the metacarpal bones Prominent forehead Aganglionic megacolon High palate Deep philtrum Craniosynostosis Microcephaly Thin vermilion border Perimembranous ventricular septal defect Seizures Highly arched eyebrow Specific learning disability Round face Scoliosis Tarsal synostosis Strabismus Hypoplasia of the corpus callosum Broad thumb Constipation Advanced eruption of teeth Low-set, posteriorly rotated ears Talipes equinovarus Abnormality of the kidney Postnatal growth retardation Camptodactyly of finger Abnormality of the helix Microtia Synophrys Sparse scalp hair Broad eyebrow Respiratory distress Severe global developmental delay Short philtrum Abnormality of the foot Premature birth Cerebellar hypoplasia Female pseudohermaphroditism Telecanthus Macrotia Malar flattening Polymicrogyria Feeding difficulties Tapered finger Long eyelashes Widow's peak Progressive microcephaly Blue sclerae Optic disc pallor Pointed chin Oligodontia Abnormality of the genitourinary system Sloping forehead Wide intermamillary distance Shawl scrotum Pachygyria Sparse eyebrow Small hand Thick vermilion border Lipoma Bifid scrotum Hypoplasia of the brainstem Megalocornea Corneal erosion Corneal ulceration Ventriculomegaly Dimple chin Cataract Intestinal malrotation Coma Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Microdontia Esotropia Syncope Sudden cardiac death Joint hypermobility Bradycardia Carious teeth Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Gastroesophageal reflux Hypothyroidism Autism Pneumonia Encephalopathy Sinusitis Cardiac arrest Recurrent infections Protruding tongue Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Torsade de pointes Hypothermia Amelogenesis imperfecta Bronchitis Hypocalcemia Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Depressivity Immunodeficiency Interphalangeal joint contracture of finger Volvulus Delayed speech and language development Broad palm Midgut malrotation Supernumerary vertebrae Acrania Ectropion of lower eyelids Abnormality of the middle ear Mandibulofacial dysostosis Eyelid coloboma Intrauterine growth retardation Anencephaly Hypoplasia of the ulna Cupped ear Ectropion Pyloric stenosis Congenital hip dislocation Short thumb Choanal atresia Depressed nasal ridge Epicanthus Intellectual disability, severe Behavioral abnormality Absent septum pellucidum Abnormality of the dentition Myopathy Dysphagia Myopia Leukocoria Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Trigonocephaly Microphthalmia Holoprosencephaly Open mouth Hypotelorism Webbed neck Single transverse palmar crease Dolichocephaly Broad forehead Wide mouth Muscular hypotonia of the trunk Natal tooth Hyperconvex fingernails Long palpebral fissure Abnormality of the thumb First degree atrioventricular block Phocomelia Abnormal aortic morphology Abnormality of the humerus Paroxysmal atrial fibrillation Anomalous pulmonary venous return Sinus bradycardia Abnormality of the carpal bones Abnormality of the upper limb Abnormality of the wrist Down-sloping shoulders Abnormality of the clavicle Thoracic scoliosis Aplasia/Hypoplasia of the radius Abnormality of the sternum Abnormality of cardiovascular system physiology Abnormality of the radius Atrioventricular canal defect Joint contracture of the hand Vertebral fusion Delayed cranial suture closure Anonychia Short middle phalanx of finger Proximal placement of thumb Short long bone Hemivertebrae Short foot Partial duplication of thumb phalanx Short distal phalanx of finger Sensorineural hearing impairment Abnormality of the forearm Abnormality of the thenar eminence Hypoplastic heart Aplasia of the pectoralis major muscle Abnormal aortic arch morphology Absent thumb Triphalangeal thumb Carpal synostosis Recurrent fractures Arterial stenosis Gastritis Increased susceptibility to fractures Bicuspid aortic valve Aortic regurgitation Decreased body weight Short palm Coronary artery stenosis Pulmonic stenosis Abdominal pain Dilatation Renal insufficiency Cardiomyopathy Hypertension Pain Intellectual disability, borderline Renal artery stenosis Abnormal vertebral morphology Urethral stricture Split hand Abnormality of the ribs Narrow chest Joint stiffness Kyphosis Glandular hypospadias Hydrometrocolpos Urogenital sinus anomaly Renovascular hypertension Ectopic anus Postaxial foot polydactyly Renal hypoplasia/aplasia Multicystic kidney dysplasia Postaxial hand polydactyly Anal atresia Carotid artery stenosis Synostosis of carpal bones Thoracolumbar scoliosis High hypermetropia Cystic renal dysplasia Trichodysplasia Velopharyngeal insufficiency Hyperconvex nail Ankyloblepharon Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Dry hair Pili canaliculi Thick nail Dystrophic fingernails Pili torti Dystrophic toenail Hypoplastic labia majora Narrow nose Generalized hyperpigmentation Absent lacrimal punctum Submucous cleft soft palate Ectrodactyly Congenital diaphragmatic hernia Ectopic kidney Preauricular pit Bilateral cryptorchidism Heart murmur Short chin Short toe Omphalocele Broad nasal tip Small, conical teeth Wide nose Oral cleft Joint laxity Umbilical hernia Brachycephaly Decreased number of sweat glands Progressive alopecia Submucous cleft hard palate Abnormality of the voice Hypoplastic fingernail Hypoplastic sacrum Short distal phalanx of toe Type B brachydactyly Distal symphalangism Aplasia/Hypoplasia of the nails Proximal symphalangism of hands Absent distal phalanges Aplasia/Hypoplasia of the distal phalanges of the hand Absent phalangeal crease Distal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the toes Aplasia/Hypoplasia of the middle phalanges of the hand Absent fingernail Delayed eruption of permanent teeth Symphalangism affecting the phalanges of the hand Short 1st metacarpal Aplasia/Hypoplasia of the middle phalanges of the toes Alopecia Coarse hair Small nail Widely spaced teeth Sparse eyelashes Hypohidrosis Renal dysplasia Thin skin Recurrent otitis media Fine hair Underdeveloped nasal alae Narrow mouth Ectodermal dysplasia Bifid uvula Hypodontia Palmoplantar keratoderma Delayed eruption of teeth Pulmonary hypoplasia Hypotrichosis Abnormal direction of ventricular apex


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