Intellectual disability, severe, and Hydronephrosis

Diseases related with Intellectual disability, severe and Hydronephrosis

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

Top matches:

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Other less relevant matches:

High 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

High match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

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

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Short nose

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus Ptosis Cryptorchidism Growth delay Depressed nasal bridge Malar flattening Midface retrusion Abnormal heart morphology Micropenis Wide nasal bridge Hypoplasia of the corpus callosum Micrognathia Everted lower lip vermilion Coarse facial features Epicanthus Cleft palate Anteverted nares High palate Spasticity Atrial septal defect Failure to thrive Highly arched eyebrow Tented upper lip vermilion Scoliosis Sensorineural hearing impairment Single transverse palmar crease Mandibular prognathia Abnormality of cardiovascular system morphology Constipation Thickened helices Microphthalmia High forehead Flexion contracture Poor speech Posteriorly rotated ears Gastroesophageal reflux Thin upper lip vermilion Laryngomalacia Optic atrophy Hypospadias Ventriculomegaly Cataract Downturned corners of mouth Visual impairment Delayed speech and language development Macroglossia Autism Abnormality of the skeletal system Absent speech

Rare Symptoms - Less than 30% cases

Clinodactyly of the 5th finger Stridor U-Shaped upper lip vermilion Clinodactyly Protruding tongue Flat face Hernia Choanal stenosis Long philtrum Facial asymmetry Short neck Muscular hypotonia of the trunk Frontal bossing Intrauterine growth retardation Scrotal hypoplasia Coloboma Behavioral abnormality Telecanthus Agenesis of corpus callosum Dilatation Renal agenesis Thick lower lip vermilion Obsessive-compulsive behavior Cerebral atrophy Stereotypy Tetralogy of Fallot Postnatal growth retardation Thick vermilion border Abnormality of the pinna Prominent forehead Downslanted palpebral fissures Broad forehead Hypoplastic labia minora Abnormality of the genital system Spastic diplegia Ambiguous genitalia Aplasia/Hypoplasia of the corpus callosum Hydroureter Hypoplasia of penis Microcornea Cerebral cortical atrophy Brachycephaly Supernumerary nipple Iris coloboma Dolichocephaly Hip dislocation Dental crowding Intellectual disability, moderate Infantile muscular hypotonia Low-set, posteriorly rotated ears Camptodactyly Macrotia Narrow mouth Plagiocephaly Profound global developmental delay Cerebral visual impairment Craniosynostosis Macrocephaly Abnormal cardiac septum morphology Prominent nasal bridge Short toe Aganglionic megacolon Broad nasal tip Short distal phalanx of finger Protruding ear Tapered finger Short philtrum Patent ductus arteriosus Strabismus Upslanted palpebral fissure Autistic behavior Feeding difficulties Convex nasal ridge Respiratory distress Tricuspid regurgitation Hypoplastic nipples Infantile spasms Sensory impairment Shallow orbits Self-mutilation Apathy Advanced eruption of teeth Arachnoid cyst Abnormal myelination Abnormal renal morphology Opisthotonus Tibial bowing Impulsivity Postaxial hand polydactyly Diabetes insipidus Pulmonary artery stenosis Sloping forehead Hypsarrhythmia Hypertrichosis Neurodegeneration Tracheomalacia Natal tooth Telangiectasia Wormian bones Radioulnar synostosis Bowel incontinence Progressive neurologic deterioration Reduced alpha/beta synthesis ratio Hepatic steatosis Intellectual disability, profound Aortic aneurysm Relative macrocephaly Genu varum Abnormal palate morphology Aortic regurgitation Short chin Bilateral sensorineural hearing impairment Unilateral renal agenesis Progressive visual loss Conotruncal defect Exaggerated cupid's bow Esotropia Prominent nose Long face Joint hyperflexibility Chorioretinal coloboma Bowing of the legs Confusion Short 2nd toe Paralysis Persistence of primary teeth Hypothyroidism Hypoplastic labia majora Syndactyly Neoplasm Posterior staphyloma Bronchomalacia Congenital nystagmus Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Hypoplasia of teeth Neurogenic bladder Vocal cord paralysis Long clavicles Self-injurious behavior Microtia Drooling Hemivertebrae Coxa valga Aspiration Recurrent urinary tract infections Dental malocclusion Arrhythmia Recurrent respiratory infections Obesity Umbilical hernia Kyphoscoliosis Dyspnea Aggressive behavior Developmental regression Abnormality of the cerebral white matter Synophrys Radial deviation of finger Microcytic anemia Sleep disturbance Hypoganglionosis Widely-spaced maxillary central incisors Endometriosis Triangular mouth Absent frontal sinuses Hemoglobin H Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Renal insufficiency Hypochromic microcytic anemia Decreased serum testosterone level Volvulus Chronic constipation Facial hypotonia Male pseudohermaphroditism Shawl scrotum Pulmonic stenosis Delayed eruption of teeth Broad ribs Abnormality of the nasopharynx Ureteral stenosis Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Bicuspid aortic valve Pyloric stenosis Hyperconvex nail Teratoma Facial hemangioma Sclerosis of skull base Chronic otitis media Wide cranial sutures Alacrima Short sternum Bicornuate uterus Short 1st metacarpal Thickened cortex of long bones Psychosis Abdominal pain Coarctation of aorta Renal cyst Vesicoureteral reflux Pneumonia Limitation of joint mobility Abnormality of metabolism/homeostasis Hypertonia Vomiting Dysphagia Sacrococcygeal teratoma Anemia Pain Wide distal femoral metaphysis Increased density of long bones Aplasia/Hypoplasia of the pubic bone Metopic suture patent to nasal root Primitive neuroectodermal tumor Hypoplasia of first ribs Irritability Abnormality of visual evoked potentials Corneal opacity Thin ribs Eclabion Hypoplastic scapulae Single umbilical artery Sclerocornea Abnormal eyebrow morphology Narrow nose Dislocated radial head Slender long bone Long hallux Narrow nasal bridge Femoral bowing Hallux valgus Congenital contracture Knee flexion contracture Elbow flexion contracture Cardiac arrest Lateral clavicle hook Ulnar bowing Bowing of the long bones Thin vermilion border Finger clinodactyly Wide anterior fontanel Open mouth Hypotelorism Webbed neck Thick eyebrow Bulbous nose Finger syndactyly Camptodactyly of toe Wide mouth Cognitive impairment Slender metacarpals Long metacarpals Glenoid fossa hypoplasia Distal ulnar hypoplasia Narrow foot Joint contracture of the hand Dandy-Walker malformation Abnormal dermatoglyphics Neonatal respiratory distress Abnormality of the liver Cleft lip Abnormality of the nervous system Hydrocephalus Lacrimal duct stenosis Chronic lung disease Preauricular pit Microretrognathia Anal atresia Muscle stiffness Abnormal lung morphology Narrow forehead Intestinal malrotation Neonatal hypotonia Dystonia Abnormality of the dentition Severe global developmental delay Cleft upper lip Underdeveloped nasal alae Shortening of all distal phalanges of the fingers Asthma Triangular face Hypoplasia of the maxilla High, narrow palate Arachnodactyly Blepharophimosis Pectus excavatum Delayed ossification of carpal bones Oral cleft Abnormally large globe Anteriorly placed anus Long palpebral fissure Cupped ear Elevated alkaline phosphatase Sparse scalp hair Small nail Inability to walk Holoprosencephaly Deep philtrum Mental deterioration Sleep apnea Dyslexia Double outlet right ventricle Abnormality of immune system physiology Transposition of the great arteries Hypoplastic left heart Nasal speech Abnormality of the genitourinary system Narrow face Anomalous pulmonary venous return Situs inversus totalis Depressed nasal ridge Specific learning disability Gastrointestinal hemorrhage Wide nose Smooth philtrum Neurological speech impairment Abdominal situs inversus Heterotaxy Apnea Subependymal cysts Pes planus Gait ataxia Intellectual disability, mild Congestive heart failure Myopia Nystagmus Bilateral trilobed lungs Aplasia/Hypoplasia of the thymus Interrupted aortic arch Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Attention deficit hyperactivity disorder Anxiety Patent foramen ovale Cerebellar atrophy Delayed puberty Congenital cataract Joint stiffness Deeply set eye Glaucoma Hypogonadism Kyphosis Peripheral neuropathy Hirsutism Leukocoria Anteverted ears Retinoblastoma Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Absent septum pellucidum Trigonocephaly Polymicrogyria Abnormal cerebellum morphology Frontoparietal polymicrogyria Decreased muscle mass Clitoral hypoplasia Upper limb spasticity Abnormal localization of kidney Retinal coloboma Severe postnatal growth retardation Cerebellar vermis atrophy Cortical dysplasia Lissencephaly Tetraplegia Generalized hirsutism Low anterior hairline Abnormality of retinal pigmentation Postnatal microcephaly Pachygyria Cerebellar vermis hypoplasia Spastic tetraplegia Decreased testicular size Tracheobronchomalacia


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