Intellectual disability, severe, and Tetralogy of Fallot

Diseases related with Intellectual disability, severe and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Other less relevant matches:

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

High match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Medium match DISTAL MONOSOMY 15Q

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26|drayer syndrome|telomeric 15q deletion syndrome|distal 15q deletion syndrome|15q26 deletion syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DISTAL MONOSOMY 15Q

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal heart morphology

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the pinna Mandibular prognathia Talipes equinovarus Hypospadias Wide nasal bridge Agenesis of corpus callosum Brachycephaly Abnormality of cardiovascular system morphology Motor delay Pectus excavatum Failure to thrive Epicanthus Brachydactyly Behavioral abnormality Clinodactyly of the 5th finger Upslanted palpebral fissure Coarctation of aorta Short philtrum Abnormal cardiac septum morphology Anteverted nares Pulmonic stenosis Cryptorchidism Cataract Patent ductus arteriosus Hip dislocation Intrauterine growth retardation Anxiety Low-set ears Depressed nasal bridge Smooth philtrum Abnormality of the kidney High forehead Short nose Malar flattening Hernia Glaucoma Constipation Bicuspid aortic valve Vesicoureteral reflux Flexion contracture Aplasia/Hypoplasia of the corpus callosum Abnormality of the skeletal system Coarse facial features Delayed eruption of teeth Single transverse palmar crease Abnormality of the cerebral white matter Camptodactyly of finger Hydronephrosis Posteriorly rotated ears Ventriculomegaly Microphthalmia Conotruncal defect Multicystic kidney dysplasia Ptosis Nasal speech Obsessive-compulsive behavior Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Syndactyly Buphthalmos Bulbous nose Dilatation Absent speech Hypoplasia of the corpus callosum Long philtrum Depressivity Skeletal muscle atrophy Severe short stature Fever Macrotia Cupped ear Triangular face Poor suck Anal atresia Hypermetropia Failure to thrive in infancy Flat occiput Coloboma Iris coloboma Joint stiffness Broad columella Protruding ear Broad nasal tip Camptodactyly Thin upper lip vermilion Cholelithiasis Focal-onset seizure Deeply set eye Anal stenosis Thin vermilion border Hirsutism Acne Gingival overgrowth Horseshoe kidney Short chin Multiple joint contractures Broad alveolar ridges Hypoplasia of the brainstem Anemia Hydrocephalus Thrombocytopenia Inguinal hernia Umbilical hernia Blepharophimosis Congenital cataract Spina bifida Talipes Wide mouth Postnatal growth retardation Megalocornea Finger syndactyly Genu valgum Brain atrophy Holoprosencephaly Open mouth Abnormality of the genital system Submucous cleft hard palate Short phalanx of finger Cleft lip Cerebellar vermis hypoplasia Short neck Congestive heart failure Clinodactyly Proptosis Cerebellar hypoplasia Aplasia of the uterus Seborrheic dermatitis Neonatal hypotonia Congenital diaphragmatic hernia Aggressive behavior Pyloric stenosis Pulmonary artery stenosis Double outlet right ventricle Micropenis Prominent forehead Interrupted aortic arch Autistic behavior Supernumerary nipple Thick vermilion border Poor speech Heterotaxy Hypoplastic left heart Midface retrusion Velopharyngeal insufficiency Apathy Transposition of the great arteries Abnormality of immune system physiology Broad forehead Specific learning disability Obesity Everted lower lip vermilion Abnormality of the genitourinary system Apnea Sensorineural hearing impairment Neurological speech impairment Psychosis Cerebral cortical atrophy Stereotypy Situs inversus totalis Attention deficit hyperactivity disorder Narrow face Limitation of joint mobility Autism Fused cervical vertebrae Patellar aplasia Aplastic anemia Allergy Focal impaired awareness seizure Delayed CNS myelination Patellar dislocation Absent radius Duodenal atresia Chromosome breakage Cardiorespiratory arrest Nevus flammeus Carpal synostosis Hyperreflexia Lateral clavicle hook Cavum septum pellucidum Nevus flammeus of the forehead Respiratory failure Osteoporosis Kyphosis Cow milk allergy Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Aplasia/hypoplasia of the humerus Pancreatic cysts Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Phocomelia Carpal bone hypoplasia Fibular aplasia Intracranial hemorrhage Left ventricular hypertrophy Hypoplasia of the radius Pulmonary artery atresia Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Graves disease Depressed nasal ridge Juvenile rheumatoid arthritis Abnormality of the endocrine system Psychotic episodes Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Giant platelets Aplasia of the thymus Genu varum Leukemia Eosinophilia Adducted thumb Hemangioma Coxa valga Osteopenia Broad thumb Blue sclerae Ventricular hypertrophy Decreased antibody level in blood Intestinal malrotation Sepsis Severe global developmental delay Hepatosplenomegaly Arteria lusoria Wide nose Pneumonia Edema Gastrointestinal hemorrhage Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Kyphoscoliosis Mitral valve prolapse Skeletal dysplasia Elevated serum creatine phosphokinase Pachygyria Encephalocele Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polymicrogyria Arthrogryposis multiplex congenita Dolichocephaly Dilated cardiomyopathy Muscular dystrophy Rigidity EEG abnormality Areflexia Bradycardia Myopathy Respiratory distress Respiratory insufficiency Gait disturbance Macrocephaly Optic atrophy Myopia Visual impairment Muscle weakness Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Preauricular skin tag Congenital hip dislocation Exodeviation Atrophy/Degeneration affecting the brainstem Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Myocardial fibrosis Retinal dysplasia Ankle contracture Anencephaly Weak cry EMG abnormality Spinal rigidity Cortical dysplasia Generalized amyotrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Congenital muscular dystrophy Plagiocephaly Lissencephaly Knee flexion contracture Hemivertebrae Aplasia cutis congenita over the scalp vertex Mitral atresia Corneal opacity Short long bone Anterior segment developmental abnormality Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Genu recurvatum Premature loss of teeth Aseptic necrosis Congenital glaucoma Delayed cranial suture closure Flared metaphysis Metatarsus adductus Tricuspid regurgitation Abnormality of the metacarpal bones Thoracolumbar kyphosis Osteolysis Wormian bones Gynecomastia Wide anterior fontanel Thickened skin Bowing of the long bones Interphalangeal joint contracture of finger Autoimmune hemolytic anemia Hip dysplasia Dental malocclusion Full cheeks Short palm Vacuolated lymphocytes Hyperplasia of the maxilla Abnormal aortic arch morphology Short thumb Decreased serum insulin-like growth factor 1 Short proximal phalanx of finger Abnormal localization of kidney Recurrent hypoglycemia Bifid tongue Generalized joint laxity Mitral stenosis Single umbilical artery Cystic hygroma Short finger Short middle phalanx of finger Finger clinodactyly Cafe-au-lait spot Multiple skeletal anomalies Small nail Small hand Short distal phalanx of finger Pulmonary hypoplasia Joint hypermobility Small for gestational age Hypoglycemia Abnormality of the dentition Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Axonal loss Arnold-Chiari malformation Basal ganglia calcification Telecanthus Developmental regression Otitis media Esotropia Abdominal distention Tapered finger Falls Cleft upper lip Pectus carinatum Synophrys Facial asymmetry Flat face Downturned corners of mouth Dehydration Highly arched eyebrow Sleep disturbance Renal cyst Macroglossia Diarrhea Vomiting Hypoplasia of penis Frontal bossing Tented upper lip vermilion Pain Nystagmus Abnormal hair laboratory examination Febrile seizures Sloping forehead Narrow foot Bifid scrotum Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology External ear malformation Drowsiness Ectopic kidney Hallux valgus Rocker bottom foot Aplasia/Hypoplasia of the cerebellum Fine hair Sparse eyebrow Drooling Dyspnea Widely spaced teeth Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Gastroesophageal reflux Recurrent otitis media Sparse scalp hair Decreased head circumference Round ear Large earlobe Abnormal myelination Natal tooth Paraplegia Protruding tongue Spastic paraplegia Tracheomalacia Sparse hair Self-mutilation Thickened helices Abnormal renal morphology Abnormality of the nervous system Advanced eruption of teeth Narrow mouth Long face Diabetes mellitus Persistence of primary teeth Pes cavus Alopecia Bronchomalacia U-Shaped upper lip vermilion Cerebral atrophy Exaggerated cupid's bow Tracheobronchomalacia Intellectual disability, mild Blindness Spasticity Arachnodactyly Bowel incontinence Phimosis Spastic diplegia Moderately short stature Macrodontia Anteverted ears Thin eyebrow Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Mild short stature High, narrow palate Chronic otitis media Chorioretinal coloboma Self-injurious behavior Cachexia Abnormality of the hair Joint contracture of the hand Renal hypoplasia Abnormality of the ribs Decreased testicular size Prominent nose Impulsivity Hypoplasia of the maxilla Bruxism Broad hallux phalanx Abnormality of the ear Fused sternal ossification centers Arthritis Conductive hearing impairment Retrognathia Hypothyroidism Hyperactivity Dementia Recurrent infections Immunodeficiency Cerebellar atrophy Dyslexia Cognitive impairment Thick anterior alveolar ridges Stridor Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Accessory oral frenulum Abdominal situs inversus Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Mental deterioration Autoimmunity Abnormal hair pattern Narrow palpebral fissure Myopathic facies Inflammation of the large intestine Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Abnormality of the hand Schizophrenia Feeding difficulties Sleep apnea Purpura Hypocalcemia Laryngomalacia Hallucinations Renal dysplasia Primary amenorrhea Low posterior hairline Peripheral demyelination Amenorrhea Renal agenesis Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Dysmetria Abnormality of the helix Postaxial foot polydactyly Esodeviation Hypertension Aplasia/Hypoplasia of the thymus Low-set, posteriorly rotated ears Subependymal cysts Bilateral trilobed lungs Polyhydramnios Renal insufficiency Polydactyly Delayed skeletal maturation Arrhythmia Recurrent respiratory infections Hepatomegaly Aplasia/Hypoplasia of the cerebral white matter Displacement of the external urethral meatus Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Craniosynostosis Toe syndactyly Anomalous pulmonary venous return Abnormality of the pharynx Ulnar deviation of finger Dislocated radial head Biparietal narrowing Radial deviation of finger Clitoral hypertrophy Trigonocephaly Hand polydactyly Redundant skin Renal hypoplasia/aplasia Sacral dimple Cutis laxa Joint dislocation Total anomalous pulmonary venous return Persistent left superior vena cava Bilateral single transverse palmar creases Urethral stenosis Omphalocele Intellectual disability, profound Postaxial hand polydactyly Limb undergrowth Short metacarpal Postaxial polydactyly Anterior creases of earlobe Common atrium Oral cleft Micromelia Hypoplasia of the pyramidal tract


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