Ventricular septal defect, and Astigmatism

Diseases related with Ventricular septal defect and Astigmatism

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 106; MRX106


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

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

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Other less relevant matches:

Low match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Low 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

Low match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hearing impairment Cryptorchidism Atrial septal defect Patent ductus arteriosus Abnormal heart morphology Coarctation of aorta Macrocephaly Seizures Myopia Motor delay Feeding difficulties Cleft palate Abnormal facial shape Intrauterine growth retardation Hypermetropia Generalized hypotonia Low-set ears Thick vermilion border High palate Thin upper lip vermilion Epicanthus Brachydactyly Abnormality of the skeletal system Hypospadias Autism Micropenis Ptosis Intestinal malrotation Conductive hearing impairment Autistic behavior Ventriculomegaly Nystagmus Micrognathia Polydactyly Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases


Precocious puberty Thin vermilion border Abnormality of cardiovascular system morphology Vesicoureteral reflux Microphthalmia Postaxial polydactyly Short palpebral fissure Hypogonadism Coarse facial features Abnormal cardiac septum morphology Thrombocytopenia Ambiguous genitalia Arnold-Chiari malformation Recurrent infections Fine hair Sparse hair Growth delay Preauricular skin tag Long face Smooth philtrum Constipation Narrow mouth Hypoplasia of the corpus callosum Mandibular prognathia Postnatal growth retardation Blepharophimosis Triangular face Oral cleft Platyspondyly Cleft lip Brachycephaly Severe short stature Respiratory insufficiency Delayed speech and language development Respiratory distress Optic nerve hypoplasia Colpocephaly Anteverted nares Deeply set eye Clinodactyly of the 5th finger Midface retrusion Pes planus Neoplasm Protruding ear Coloboma 2-3 toe syndactyly Neutropenia Renal cyst Inguinal hernia Retrognathia Macrotia Clinodactyly Cataract Sensorineural hearing impairment High hypermetropia Failure to thrive Furrowed tongue Abnormality of the abdominal wall Progeroid facial appearance Ovoid vertebral bodies Ovarian cyst Bilateral conductive hearing impairment Thick nail Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Long penis Mitral valve prolapse Broad eyebrow Hypertension Obesity Syndactyly Malar flattening Behavioral abnormality Cerebellar atrophy Cardiomyopathy Short neck Flexion contracture Macrodontia Ataxia Abnormality of the dentition Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Ketoacidosis Metatarsus adductus Bell-shaped thorax Abdominal distention Dental crowding Thin skin Hypertrichosis Epidermal acanthosis Optic disc pallor Dehydration Microcornea Insulin resistance Single transverse palmar crease Iris coloboma Hirsutism Dry skin Carious teeth Wide nose Decreased testicular size Wide anterior fontanel Sparse and thin eyebrow Growth hormone excess Sparse eyebrow Prematurely aged appearance Abnormality of the thyroid gland Hyperactivity Hyperglycemia Neonatal respiratory distress Clitoral hypertrophy Poor suck Narrow face Polycystic ovaries Coarse hair Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Narrow palate Generalized hirsutism Recurrent respiratory infections Cough Respiratory failure Irregular vertebral endplates Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Submucous cleft hard palate Constrictive median neuropathy Wheezing Pericarditis Arthropathy Keratoconus Thickened calvaria Abnormal joint morphology Vertebral fusion Craniofacial hyperostosis Peptic ulcer Pericardial effusion Large iliac wings Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Esophageal stenosis Femoral hernia Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Short finger External genital hypoplasia Camptodactyly Thick eyebrow Amenorrhea Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Hypoplasia of the maxilla Short palm Small for gestational age Abnormality of the cardiovascular system Prominent nasal bridge Short philtrum Abnormality of the pinna Microtia Scarring Joint stiffness Respiratory tract infection Specific learning disability Abnormality of the ribs Blurred vision Short long bone Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Narrow palpebral fissure Choanal atresia EMG abnormality Aortic valve stenosis Short toe Abnormality of epiphysis morphology Thickened skin Abnormality of the metaphysis Abnormal lung morphology Narrow forehead Neonatal hypotonia Hyperlordosis Obstructive sleep apnea Fused cervical vertebrae Short 1st metacarpal Duodenal atresia Absent septum pellucidum Absent thumb Patent foramen ovale Horseshoe kidney Scaphocephaly Bone marrow hypocellularity Short thumb Renal hypoplasia Growth hormone deficiency Broad femoral neck Pallor Hypothyroidism Abnormal renal morphology Small pituitary gland Downslanted palpebral fissures Craniosynostosis Pulmonary hypoplasia Cleft upper lip Gait ataxia Narrow chest Hypotelorism Pectus carinatum Rhizomelia Chromosomal breakage induced by crosslinking agents Skeletal dysplasia Coxa valga Accelerated skeletal maturation Edema Hydrocephalus Scrotal hypoplasia Metaphyseal widening Agenesis of corpus callosum Talipes equinovarus Postaxial hand polydactyly Long foot Overgrowth Bifid ureter Renal malrotation Long hallux Retinal coloboma Varicose veins Enlarged kidney Macroglossia Large for gestational age Bowing of the legs Large hands Nephroblastoma Spina bifida occulta Spina bifida Tall stature Round face Renal insufficiency Anemia Cupped ear Gait imbalance Flat acetabular roof Short clavicles Anteriorly placed anus Neurodevelopmental delay Short femoral neck Trigonocephaly Talipes Intellectual disability, mild Wormian bones Omphalocele Hernia Tetralogy of Fallot Postural instability Tapered finger Retinal dystrophy Cerebellar vermis hypoplasia Feeding difficulties in infancy Single median maxillary incisor Drooling Peripheral neuropathy Depressed nasal bridge Muscular hypotonia Spastic diplegia Periventricular gray matter heterotopia Increased mean corpuscular volume Short nose Abnormal hair pattern Biparietal narrowing Proximal placement of thumb Chronic otitis media Pointed chin Supernumerary nipple Mitral regurgitation Intellectual disability, severe Bicuspid aortic valve Highly arched eyebrow Hypoglycemia Abnormality of the kidney Telecanthus Muscular hypotonia of the trunk Proteinuria Abnormality of the nervous system Renal dysplasia Gastroesophageal reflux Absent speech Open mouth Amblyopia Hyperkeratosis Diabetes mellitus Prominent forehead Posteriorly rotated ears Finger clinodactyly Hip dysplasia Slender finger Pachygyria Median cleft lip Spondylometaphyseal dysplasia Abnormality of the larynx Dilation of lateral ventricles Thoracic dysplasia Short tibia Microglossia Mesomelia Median cleft lip and palate Preaxial hand polydactyly Tricuspid regurgitation Polycystic kidney dysplasia Short ribs Hepatic fibrosis Hydrops fetalis Abnormality of the genital system Lateral clavicle hook Horizontal ribs Dilated cardiomyopathy Frontal bossing Wide mouth Periventricular leukomalacia Intellectual disability, moderate High forehead Long philtrum Kyphosis Dysphagia Visual impairment Hamartoma of tongue Scoliosis Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Polysyndactyly of hallux Shortening of the tibia Pancreatic fibrosis Hypoplasia of the epiglottis Hypoplasia of eyelid



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Camptodactyly of finger, related diseases and genetic alterations

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