Ventricular septal defect, and High myopia

Diseases related with Ventricular septal defect and High myopia

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


Top matches:

High match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

High match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

High match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

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Other less relevant matches:

High match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Medium match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Medium match BOHRING-OPITZ SYNDROME


Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Medium match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hearing impairment Micrognathia Seizures Cryptorchidism Cataract Depressed nasal bridge Low-set ears Tapered finger Low anterior hairline Hernia Synophrys High palate Sensorineural hearing impairment Generalized hypotonia Brachycephaly Strabismus Mitral regurgitation Glaucoma Pulmonic stenosis Ptosis Misalignment of teeth Long philtrum Syndactyly Inguinal hernia Gastroesophageal reflux Retrognathia Ectopia lentis Aortic valve stenosis Thickened skin Macrocephaly Wide mouth Downslanted palpebral fissures Congenital diaphragmatic hernia Abnormal facial shape Nystagmus Intestinal malrotation Prominent forehead Proptosis High, narrow palate Atrial septal defect Thin upper lip vermilion Broad palm Thick eyebrow Smooth philtrum Wide nasal bridge Intrauterine growth retardation Abnormality of dental morphology Optic atrophy Blindness Highly arched eyebrow Abnormal heart morphology Intellectual disability, mild Microcephaly Growth delay Long eyelashes Hypoplasia of the maxilla Brachydactyly Lumbar hyperlordosis Failure to thrive Narrow palate Feeding difficulties

Rare Symptoms - Less than 30% cases


Hirsutism Cleft upper lip Volvulus Severe global developmental delay Low posterior hairline Retinopathy Camptodactyly Talipes equinovarus Upslanted palpebral fissure Ventriculomegaly Recurrent infections Dilatation Short neck Wide intermamillary distance Intellectual disability, severe Vesicoureteral reflux Hiatus hernia Convex nasal ridge Delayed speech and language development Respiratory tract infection Prominent nasal bridge Aggressive behavior Small for gestational age Clinodactyly Anteverted nares Astigmatism Pes planus Small hand Single transverse palmar crease Microcornea Otitis media Preauricular skin tag Short metatarsal Postnatal growth retardation Abnormality of the pinna Narrow forehead Abnormality of the skeletal system Hypertrichosis Elbow flexion contracture Dislocated radial head Thick hair Webbed neck Weak cry Downturned corners of mouth Mandibular prognathia Craniosynostosis Cardiomyopathy Behavioral abnormality Cleft palate Pectus excavatum Clinodactyly of the 5th finger Cerebellar hypoplasia Thrombocytopenia Macrotia Muscular hypotonia Proportionate short stature Retinal detachment Retinal dystrophy Polyhydramnios Iris coloboma Pulmonary hypoplasia Coloboma Limitation of joint mobility Proteinuria Edema Abnormality of cardiovascular system morphology Patent ductus arteriosus Posteriorly rotated ears Joint stiffness Spinal canal stenosis Progressive visual loss Shallow orbits Flexion contracture Agenesis of corpus callosum Broad ribs Thin bony cortex Shallow anterior chamber Broad metatarsal Broad metacarpals Malar flattening Microspherophakia Broad skull Visual loss Broad phalanges of the hand Mitral valve prolapse Broad nasal tip Telecanthus Neoplasm Decreased fetal movement Short sternum Heterotopia Prominent eyelashes Micromelia Toe syndactyly Recurrent aphthous stomatitis Hip dislocation Tapetoretinal degeneration Autistic behavior Iris atrophy Aplasia/Hypoplasia of the earlobes Pallor Macrodontia Skeletal muscle atrophy Hypertrophic cardiomyopathy Respiratory insufficiency Vertigo Thin vermilion border Abnormality of the larynx Granulocytopenia Bone spicule pigmentation of the retina Short thumb Sleep disturbance Delayed eruption of teeth Renal cyst Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Vocal cord paralysis Triangular face Microglossia Gingivitis Bull's eye maculopathy Conductive hearing impairment Congenital neutropenia Chorioretinal dysplasia Respiratory failure Hemeralopia Fever Hypertension Narrow palm Narrow philtrum Anemia Cutis gyrata of scalp High-pitched cry Slender toe Cat cry Thick corpus callosum Hypoplastic philtrum Childhood-onset truncal obesity Hydrocephalus Vomiting Macrodontia of permanent maxillary central incisor Pneumonia Hypoglycemia Autism Narrow mouth Hyperactivity Hyperhidrosis Severe short stature Hyperplasia of the maxilla Abnormality of the dentition Delayed skeletal maturation Laryngeal stenosis Hypospadias Headache Chorioretinal dystrophy Hypertonia Sepsis Aspiration Microdontia Reduced renal corticomedullary differentiation Abnormal cardiac septum morphology Constipation Absent speech Gait disturbance Dysarthria Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Otitis media with effusion Broad thumb Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Bulbous nose Slender finger Gastroparesis Hip dysplasia Hypochromic anemia Long toe Moderate global developmental delay Sparse lateral eyebrow Down-sloping shoulders Hypoparathyroidism Microcytic anemia Hypoplasia of dental enamel Dental malocclusion Single umbilical artery Hypodontia Developmental regression Osteopenia Dysphagia Unilateral cryptorchidism Diastema Cavum septum pellucidum Speech apraxia Absent hand Supernumerary ribs Blue sclerae Hypoplasia of the radius Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Deep philtrum Incoordination Abnormality of the urinary system Relative macrocephaly Short middle phalanx of finger Widely spaced teeth Torticollis Spontaneous abortion Increased body weight Hydronephrosis Recurrent urinary tract infections Choanal atresia Renal hypoplasia Cutis marmorata 2-3 toe syndactyly Phocomelia Hypoplastic labia majora Hand oligodactyly Perimembranous ventricular septal defect Peters anomaly Panhypopituitarism Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Esophagitis Ectopic kidney Aspiration pneumonia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Abnormality of digit Limited elbow extension Opisthotonus Posterior subcapsular cataract Radioulnar synostosis Peripheral visual field loss CNS hypomyelination Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Nephroblastoma Elbow dislocation Trigonocephaly Sleep apnea Ulnar deviation of finger Hemangioma Sacral dimple Joint dislocation Umbilical hernia Bradycardia Short toe Decreased body weight Biparietal narrowing Prominent metopic ridge Intellectual disability, profound Broad alveolar ridges Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Abnormal anterior chamber morphology Underdeveloped supraorbital ridges Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Nevus flammeus Interphalangeal joint contracture of finger Dandy-Walker malformation Hyperechogenic pancreas Hypoplasia of the corpus callosum Epiphyseal dysplasia Long nose Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Abnormality of the uterus Bicornuate uterus Cerebral cortical atrophy Proximal tubulopathy Diaphragmatic eventration Macular hypoplasia Infra-orbital crease Hepatomegaly Low-molecular-weight proteinuria Non-acidotic proximal tubulopathy Prominent supraorbital ridges Aplasia/Hypoplasia of the corpus callosum Broad forehead Omphalocele Nevus Full cheeks Short foot Everted lower lip vermilion Long face Oral cleft Talipes Narrow chest Aminoaciduria Platyspondyly Camptodactyly of finger Wide anterior fontanel Abnormality of the kidney Apnea Abnormal vertebral morphology Cleft lip Muscular hypotonia of the trunk Facial capillary hemangioma Delayed peripheral myelination Thoracic scoliosis Clumsiness Intellectual disability, progressive Arthrogryposis multiplex congenita Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Tall stature Open mouth Leukopenia Pigmentary retinopathy Pterygium Aciduria Growth hormone deficiency Prominent nose Short metacarpal Congenital contracture Sandal gap Venous thrombosis Akinesia Cerebral hemorrhage Subcapsular cataract Facial palsy Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Constriction of peripheral visual field Recurrent skin infections Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Precocious puberty Dilated cardiomyopathy Reduced number of teeth Laryngomalacia Neutropenia Fetal akinesia sequence Midface retrusion Obesity Arthritis Neonatal hypotonia Kyphoscoliosis Hypothyroidism Reduced visual acuity Diabetes mellitus Rod-cone dystrophy Microphthalmia Intellectual disability, moderate Kyphosis Osteoporosis Respiratory distress Frontal bossing Motor delay Visual impairment Short nose Joint laxity Feeding difficulties in infancy Vitreoretinopathy Degenerative vitreoretinopathy Thick vermilion border Limb joint contracture Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Multiple pterygia Joint hyperflexibility Protruding ear Genu valgum Delayed puberty Neurological speech impairment Finger syndactyly Short philtrum Stroke Nyctalopia Paralysis Short 2nd finger



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