Intellectual disability, severe, and Dandy-Walker malformation

Diseases related with Intellectual disability, severe and Dandy-Walker malformation

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


Top matches:

High match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

High match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

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Other less relevant matches:

High match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

High match VAN DEN ENDE-GUPTA 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

High match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

High match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Dandy-Walker malformation

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
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Other less frequent symptoms

Patients with Intellectual disability, severe and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Inguinal hernia Molar tooth sign on MRI Growth delay Agenesis of corpus callosum Abnormal facial shape Low-set ears Posteriorly rotated ears Muscular hypotonia Ataxia Strabismus Microcephaly Epicanthus High palate Micropenis Hydrocephalus Flexion contracture Cerebellar hypoplasia Macrocephaly Polydactyly Ventriculomegaly Hypoplasia of the corpus callosum Sensorineural hearing impairment Failure to thrive Protruding ear Coloboma Postaxial polydactyly Cerebellar vermis hypoplasia Anal atresia Cleft upper lip Nystagmus Skeletal muscle atrophy Talipes equinovarus Hydronephrosis Esotropia Frontal bossing Renal dysplasia Aplasia/Hypoplasia of the corpus callosum Motor delay Retinal dystrophy Bifid uvula Congenital contracture Hypospadias Microphthalmia Absent speech Wide anterior fontanel

Rare Symptoms - Less than 30% cases


Prominent forehead Aggressive behavior Encephalocele Occipital encephalocele Joint contracture of the hand High, narrow palate Arachnodactyly Meningocele Blepharophimosis Camptodactyly Scoliosis Aplasia/Hypoplasia involving the skeletal musculature Abnormality of the cerebellar vermis Narrow mouth Long face Pectus excavatum Myopathy Absent septum pellucidum Micrognathia Preaxial polydactyly Postnatal growth retardation Abnormality of the pinna Retrognathia Abnormality of cardiovascular system morphology Areflexia Muscular dystrophy Specific learning disability Long philtrum Ventricular septal defect Optic atrophy Preaxial foot polydactyly Partial agenesis of the corpus callosum Abnormality of neuronal migration Preaxial hand polydactyly Renal hypoplasia/aplasia Brachydactyly Finger clinodactyly Hypoplasia of the brainstem Renal agenesis Oral cleft Toe syndactyly Abnormality of the kidney Apnea Cleft lip Abnormal heart morphology Intrauterine growth retardation Clinodactyly Hernia Dilatation Submucous cleft hard palate Open mouth Syndactyly Highly arched eyebrow Wide nasal bridge Talipes Spasticity Prominent occiput Ambiguous genitalia Cerebral atrophy Aplasia/Hypoplasia of the cerebellum Poor speech Short nose Hyporeflexia Ptosis Hearing impairment Postaxial hand polydactyly Hyperactivity Retinopathy Hypertension Difficulty walking Apraxia Broad nasal tip Prominent nasal bridge Short philtrum Tented upper lip vermilion Attention deficit hyperactivity disorder Oculomotor apraxia Downslanted palpebral fissures Deeply set eye High forehead Respiratory tract infection Abnormality of the nervous system Malar flattening Abnormality of the cerebral white matter Corneal opacity Congenital cataract Heterotopia Polymicrogyria Iris coloboma Retinal detachment Microcornea Hypoplasia of penis Intellectual disability, profound Pachygyria Proptosis Severe muscular hypotonia Lissencephaly Optic nerve hypoplasia Atresia of the external auditory canal Congenital muscular dystrophy Microtia Myopia Glaucoma Diastasis recti Thin vermilion border Tapered finger Absence seizures Wide intermamillary distance Omphalocele Preauricular skin tag Spontaneous abortion Microretrognathia Diabetes insipidus External genital hypoplasia Abnormality of digit Anencephaly Arachnoid cyst Postaxial foot polydactyly Rectovaginal fistula Elevated serum creatine phosphokinase Intracranial cystic lesion Brain atrophy Blindness Aganglionic megacolon Cataract Muscle weakness Pulmonary valve defects Bifid distal phalanx of the thumb Hypoplasia of teeth Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Triangular mouth Hypopigmentation of the fundus Anophthalmia Retinal dysplasia Congenital glaucoma Abnormal form of the vertebral bodies Radioulnar synostosis Pyloric stenosis Abnormality of the urinary system Multicystic kidney dysplasia Situs inversus totalis Abnormality of the face Short palpebral fissure Mask-like facies Renal hypoplasia Interphalangeal joint contracture of finger Peripheral demyelination Pulmonary hypoplasia Arthrogryposis multiplex congenita Pectus carinatum Myotonia Metatarsus adductus Joint stiffness Epispadias Fixed facial expression Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Congenital ptosis Limb joint contracture Primitive reflex Dextrocardia Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Abnormality of the sternum Decreased muscle mass Hydroureter Camptodactyly of finger Kyphoscoliosis Intellectual disability, mild Aqueductal stenosis Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Buphthalmos Remnants of the hyaloid vascular system Abnormality of the optic nerve Abnormal cortical gyration Severe global developmental delay Bilateral cleft lip Megalocornea Retinal atrophy Atrial septal defect Excessive daytime sleepiness Posterior fossa cyst Polyhydramnios Thick cerebral cortex Severe short stature Kyphosis Short neck Anteverted nares Feeding difficulties Abnormal aldolase level Hypoplastic male external genitalia Meningoencephalocele Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Smooth philtrum Abnormality of the dentition Finger syndactyly Bulbous nose Stereotypy Broad-based gait Craniosynostosis Progressive neurologic deterioration Generalized muscle weakness Inability to walk Everted lower lip vermilion Hypoplasia of the maxilla Triangular face Asthma Underdeveloped nasal alae Convex nasal ridge Bowing of the long bones Dental crowding Cardiac arrest Limb ataxia Elbow flexion contracture Knee flexion contracture Laryngomalacia Stridor Hallux valgus Femoral bowing Narrow nasal bridge Slender long bone Thin ribs Dislocated radial head Narrow nose Abnormal eyebrow morphology Sclerocornea Single umbilical artery Macrotia Poor eye contact Hypoplastic scapulae Happy demeanor Abnormality of eye movement Irritability Abnormality of the eye Multiple renal cysts Breathing dysregulation Morning glory anomaly Pneumonia Hyperreflexia Dementia Cerebral cortical atrophy Gait ataxia Mandibular prognathia Coarse facial features Wide mouth Thick vermilion border Respiratory distress Neurodegeneration Prominent nose Cerebral calcification Choreoathetosis Narrow face Pointed chin Self-injurious behavior Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Impaired social interactions Poor coordination Depressed nasal bridge Abnormality of the skeletal system Choanal stenosis Eclabion Broad forehead Hypoplasia of olfactory tract Congenital diaphragmatic hernia Biparietal narrowing Hamartoma Foot polydactyly Short femur Accessory oral frenulum Abnormal oral frenulum morphology Lobulated tongue Hamartoma of tongue Tongue nodules Mesoaxial polydactyly Episodic tachypnea Hypothalamic hamartoma Bulimia Mesoaxial hand polydactyly Abnormal retinal morphology Occipital meningocele Y-shaped metacarpals Midline notch of upper alveolar ridge Central Y-shaped metacarpal Sloping forehead Renal cyst Mild microcephaly Clinodactyly of the 5th finger Hypothyroidism Hyperphosphatemia Umbilical hernia Intellectual disability, moderate Elevated alkaline phosphatase Abnormal cardiac septum morphology Tibial bowing Tall stature Lateral clavicle hook Conductive hearing impairment Long hallux Ulnar bowing Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Glenoid fossa hypoplasia Long metacarpals Slender metacarpals Short stature Hypermetropia Fever Tremor Gait disturbance Recurrent respiratory infections Hypertonia Bilateral cryptorchidism Low-set, posteriorly rotated ears Dysphagia Dysarthria Feeding difficulties in infancy Delayed speech and language development Abnormality of the clavicle Abnormal cerebellum morphology Nephronophthisis Tachypnea Triphalangeal thumb Polycystic kidney dysplasia Hand polydactyly Trigonocephaly Radial deviation of finger Abnormal anatomic location of the heart



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