Intellectual disability, severe, and Vesicoureteral reflux

Diseases related with Intellectual disability, severe and Vesicoureteral reflux

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

Top matches:

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Other less relevant matches:

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

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

High match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM 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

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

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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Vesicoureteral reflux

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Atrial septal defect Upslanted palpebral fissure Micrognathia Cerebral cortical atrophy Generalized hypotonia Agenesis of corpus callosum Hypospadias Synophrys Posteriorly rotated ears Epicanthus Delayed speech and language development Short nose Talipes equinovarus Wide nasal bridge Abnormal facial shape Ptosis Strabismus Abnormality of the kidney Gastroesophageal reflux Low-set ears Pyloric stenosis Delayed eruption of teeth Short neck Abnormality of cardiovascular system morphology Anteverted nares Hyperactivity Failure to thrive Tetralogy of Fallot Sensorineural hearing impairment Depressed nasal bridge Widely spaced teeth Everted lower lip vermilion Obsessive-compulsive behavior Short foot Pectus excavatum Malar flattening Midface retrusion Pulmonic stenosis Hernia Obesity Delayed skeletal maturation Abnormal heart morphology Conductive hearing impairment Anxiety Hydronephrosis Constipation Behavioral abnormality Tapered finger Supernumerary nipple Hypoplasia of the corpus callosum Camptodactyly of finger Telecanthus Abnormal cardiac septum morphology Retrognathia Dilatation Syndactyly Intestinal malrotation Intrauterine growth retardation Hydrocephalus Open mouth

Rare Symptoms - Less than 30% cases

Protruding tongue Absent speech Macrotia Glaucoma Fever Hypocalcemia Narrow palate Cutaneous syndactyly Long philtrum Hypertonia Ectopic kidney Inguinal hernia Deep plantar creases Pulmonary artery stenosis External ear malformation Neurological speech impairment Myopia Hypoplasia of the brainstem U-Shaped upper lip vermilion Conotruncal defect Nystagmus Cataract Recurrent infections Depressivity Narrow forehead Patent ductus arteriosus Polyhydramnios Microtia Abnormality of the genital system Drooling Vomiting Optic atrophy Submucous cleft hard palate Cognitive impairment Aplasia/Hypoplasia of the cerebellum Elbow dislocation Hepatomegaly Diarrhea Hypothyroidism Multicystic kidney dysplasia Talipes Umbilical hernia Camptodactyly Bilateral single transverse palmar creases Short philtrum Low anterior hairline Primary amenorrhea Finger syndactyly Low posterior hairline Congenital diaphragmatic hernia Abnormality of the foot Thick eyebrow Hirsutism Narrow chest Small hand Apathy Hypogonadism Coarse facial features Mandibular prognathia Autism Micropenis Brachycephaly Recurrent respiratory infections Renal insufficiency Brachydactyly Unilateral renal agenesis Pachygyria Heterotopia Sloping forehead Craniosynostosis Thin upper lip vermilion Hyperreflexia Abnormality of the pinna Renal dysplasia Microphthalmia Iris coloboma Convex nasal ridge Decreased testicular size Renal hypoplasia Aganglionic megacolon Frontal bossing Exaggerated cupid's bow High forehead Smooth philtrum Thin vermilion border Horseshoe kidney Biparietal narrowing Prominent metopic ridge Aggressive behavior Intellectual disability, moderate Cleft upper lip Flat face Broad forehead Coarctation of aorta Hypoplasia of penis Limitation of joint mobility Bicuspid aortic valve Macroglossia Tented upper lip vermilion Sleep disturbance Highly arched eyebrow Downturned corners of mouth Psychosis Abnormality of the cerebral white matter Sacral meningocele Central nervous system degeneration Psychotic episodes Aplasia of the thymus Coloboma Nevus Postnatal growth retardation Deeply set eye Wide intermamillary distance Arteria lusoria Vascular ring Autoimmune thrombocytopenia Dandy-Walker malformation High myopia Downslanted palpebral fissures Posterior embryotoxon Motor delay Pain Intellectual disability, profound Perineal fistula Anal stenosis Pectus carinatum Hyperechogenic pancreas Brain atrophy Dehydration Febrile seizures Focal-onset seizure High, narrow palate Delusions Retinal vascular tortuosity Otitis media Esotropia Myopathic facies Velopharyngeal insufficiency Abnormality of the ear Abdominal distention Full cheeks Basal ganglia calcification Giant platelets Autoimmune hemolytic anemia Axonal loss Falls Delayed peripheral myelination Facial capillary hemangioma Bipolar affective disorder Sleep apnea Broad palm Short thorax Overlapping toe Right aortic arch with mirror image branching Nephroblastoma Trigonocephaly Interphalangeal joint contracture of finger CNS hypomyelination Hypoparathyroidism Ulnar deviation of finger Hemangioma Sacral dimple Unilateral lung agenesis Joint dislocation Elbow flexion contracture Bradycardia Short toe Decreased body weight Dislocated radial head Underdeveloped supraorbital ridges Hypertrichosis Broad alveolar ridges Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Vitiligo Inflammation of the large intestine Atrophy of the spinal cord Meningocele Congenital conductive hearing impairment Nevus flammeus Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Accessory oral frenulum Abnormality of the endocrine system Fine hair Dysmetria Renal agenesis Aplasia of the uterus Underdeveloped nasal alae Graves disease Chorea Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Truncus arteriosus Congenital cataract Autoimmunity Blepharophimosis Mental deterioration Arthritis Dementia Thrombocytopenia Immunodeficiency Cerebellar atrophy Specific learning disability Amenorrhea Interrupted aortic arch Arnold-Chiari malformation Pulmonary artery atresia Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Psoriasiform dermatitis Abnormality of the hand Schizophrenia Holoprosencephaly Seborrheic dermatitis Juvenile rheumatoid arthritis Long face Echolalia Purpura Narrow palpebral fissure Spina bifida Myelomeningocele Hallucinations Peripheral demyelination Anemia Aplasia/Hypoplasia of the cerebral white matter Sparse scalp hair Hallux valgus Hearing abnormality Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Drowsiness Rocker bottom foot Large earlobe Cupped ear Bifid scrotum Sparse eyebrow Poor suck Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Pointed chin Postnatal microcephaly Recurrent otitis media Bruxism Broad hallux phalanx Perimembranous ventricular septal defect Generalized muscle hypertrophy Platybasia Mood swings Pulmonary artery sling Large basal ganglia Right aortic arch Acne Abnormal morphology of the hippocampus Abnormal eye morphology Impaired T cell function Pierre-Robin sequence Broad columella Uplifted earlobe Atypical absence seizures Happy demeanor Subglottic stenosis Broad eyebrow Prominent nasal tip Duodenal stenosis Esodeviation Paranoia Absence seizures Abnormality of the dentition Oral cleft Hip dysplasia Truncal obesity Cutis marmorata Proximal placement of thumb Radioulnar synostosis Atresia of the external auditory canal Generalized hirsutism Long eyelashes Choanal atresia Premature birth Oligodactyly Microcornea Micromelia Delayed puberty Toe syndactyly Hip dislocation Attention deficit hyperactivity disorder Joint stiffness Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypoplastic nipples Blepharitis Peripheral neuropathy Spasticity Genu valgum Nail dystrophy Spastic paraplegia Dolichocephaly Wide mouth Pes planus Kyphoscoliosis Pneumonia Clinodactyly Abnormally low-pitched voice Severe postnatal growth retardation Prenatal movement abnormality Phthisis bulbi Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Clinodactyly of the 5th finger Tracheobronchomalacia Thick vermilion border Generalized tonic-clonic seizures Bird-like facies Abnormal cortical bone morphology Mild microcephaly Chromosome breakage Hypergonadotropic hypogonadism Spastic tetraplegia Tetraplegia Optic disc hypoplasia Preauricular skin tag Hypoplasia of the bladder Small cerebral cortex Abnormality of brain morphology Optic nerve hypoplasia Plagiocephaly Hemivertebrae Postaxial hand polydactyly Ichthyosis Hypotrichosis Protruding ear Alopecia Hypoplasia of the frontal lobes Increased rate of premature chromosome condensation Bronchomalacia Impulsivity Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Tracheomalacia Natal tooth Bowel incontinence Self-injurious behavior Arrhythmia Chronic otitis media Stereotypy Renal cyst Single transverse palmar crease Poor speech Facial asymmetry Autistic behavior Developmental regression Dyspnea Paraplegia Thick lower lip vermilion Platyspondyly Hypoplastic iliac wing Rectal prolapse Periorbital edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Edema of the lower limbs Primary hypothyroidism Polysplenia Coronal craniosynostosis Palpebral edema Increased number of teeth Cutaneous finger syndactyly Pericardial effusion Abnormality of dental morphology Pleural effusion Hypoalbuminemia Chylothorax Abnormal oral mucosa morphology Oligodontia Neoplasm Severe global developmental delay Retinopathy Apnea Cleft lip Muscular hypotonia of the trunk Proptosis Prominent forehead Feeding difficulties Flexion contracture Pleural lymphangiectasia Intestinal lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Reduced number of teeth Abnormal intestine morphology Exotropia Slender finger Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Abnormality of blood and blood-forming tissues External genital hypoplasia Alternating exotropia Mild short stature Bilateral cryptorchidism Radial deviation of finger Encephalitis Scrotal hypoplasia Infantile muscular hypotonia Intellectual disability, progressive Increased body weight Narrow face Hypoplastic philtrum Paroxysmal bursts of laughter Spina bifida occulta Malabsorption Joint contracture of the hand Lymphopenia Hydrops fetalis Lymphedema Gingival overgrowth Decreased antibody level in blood Ascites Short palm Lymphadenopathy Respiratory tract infection Overjet Hepatosplenomegaly Narrow mouth Splenomegaly Intellectual disability, mild Congestive heart failure Edema Respiratory distress Respiratory insufficiency Triangular nasal tip Unilateral primary pulmonary dysgenesis


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