Intellectual disability, severe, and Protruding ear

Diseases related with Intellectual disability, severe and Protruding ear

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Protruding ear 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

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

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

Other less relevant matches:

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY 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

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Short stature Scoliosis Flexion contracture Motor delay Agenesis of corpus callosum Absent speech Talipes equinovarus High palate Growth delay Low-set ears Tapered finger Hypertonia Intrauterine growth retardation Hypoplasia of the corpus callosum Dandy-Walker malformation Deeply set eye Hyperreflexia Highly arched eyebrow Failure to thrive Cerebral cortical atrophy Abnormal facial shape Cerebellar hypoplasia Poor speech Delayed speech and language development Macrotia Thin upper lip vermilion Cleft palate

Rare Symptoms - Less than 30% cases

Inguinal hernia Aggressive behavior Hypoplasia of the maxilla Aplasia/Hypoplasia of the cerebellum Tetraplegia Hyperactivity Difficulty walking Hypermetropia Hearing impairment Inability to walk Muscular hypotonia Long face Pointed chin Ventriculomegaly Nystagmus Mandibular prognathia Visual impairment Prominent forehead Arachnodactyly Wide nasal bridge Optic atrophy Coarse facial features Spastic tetraplegia Macrocephaly Pectus excavatum Convex nasal ridge High, narrow palate Long philtrum Long eyelashes Everted lower lip vermilion Hirsutism Depressed nasal bridge Feeding difficulties Micrognathia Anteverted nares Partial agenesis of the corpus callosum Hypertelorism Ataxia Autism Long nose Abnormality of the pinna Renal dysplasia Prominent nasal bridge Decreased testicular size Low anterior hairline Overlapping toe Smooth philtrum Hydrocephalus Microphthalmia Intellectual disability, progressive Bifid uvula Downturned corners of mouth Wide nose Narrow mouth Neurological speech impairment Microretrognathia Long palpebral fissure Round face Flat occiput Sacral dimple Hydronephrosis Camptodactyly Craniosynostosis Small for gestational age Malar flattening Respiratory distress Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Abnormality of the skeletal system Muscular hypotonia of the trunk Absence seizures Widely spaced teeth Short philtrum Telecanthus Short nose Dystonia Epicanthus Short palpebral fissure Wide intermamillary distance Thin vermilion border Stridor Blepharophimosis Interphalangeal joint contracture of finger Brachydactyly Myopia Clinodactyly Babinski sign Upslanted palpebral fissure Micropenis Intellectual disability, moderate Camptodactyly of finger Spastic paraplegia Paraplegia Falls Short palm Short distal phalanx of finger Short foot Decreased body weight Slender metacarpals Large hands Lower limb hyperreflexia Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Cognitive impairment Long metacarpals Triangular face Slender long bone Asthma Underdeveloped nasal alae Ambiguous genitalia Bowing of the long bones Dental crowding Joint contracture of the hand Cardiac arrest Elbow flexion contracture Knee flexion contracture Laryngomalacia Congenital contracture Hallux valgus Femoral bowing Narrow nasal bridge Thin ribs Glenoid fossa hypoplasia Dislocated radial head Narrow nose Abnormal eyebrow morphology Sclerocornea Single umbilical artery Choanal stenosis Hypoplastic scapulae Eclabion Lateral clavicle hook Long hallux Ulnar bowing Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Broad thumb Generalized hirsutism Broad forehead Bulbous nose Skeletal muscle atrophy Dysphagia Hyporeflexia Recurrent respiratory infections Abnormality of the nervous system Respiratory tract infection Coloboma Attention deficit hyperactivity disorder Talipes Anal atresia Generalized muscle weakness Alopecia Esotropia Progressive neurologic deterioration Broad-based gait Stereotypy Limb ataxia Molar tooth sign on MRI Poor eye contact Poor coordination Impaired social interactions Happy demeanor Cataract Dysarthria Upper eyelid edema Glaucoma Hypotrichosis Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Vesicoureteral reflux Iris coloboma Ichthyosis Posteriorly rotated ears Nonprogressive cerebellar ataxia Low-set, posteriorly rotated ears Sparse hair Thick eyebrow Abnormal cerebellum morphology Narrow forehead Cerebellar vermis hypoplasia Thick lower lip vermilion Aplasia/Hypoplasia of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Cerebral atrophy Retinopathy Abnormal cardiac septum morphology Abnormality of the hip bone Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Hypospadias Neonatal hypotonia Severe global developmental delay Synophrys Abnormality of the genital system Lissencephaly Renal hypoplasia/aplasia Prominent supraorbital ridges Infantile spasms Narrow face Abnormally large globe Abnormal hair pattern Limb joint contracture Broad alveolar ridges Hyperconvex nail Downslanted palpebral fissures Short neck Abnormal heart morphology Brachycephaly Retrognathia Autistic behavior Self-injurious behavior Choreoathetosis Abnormality of skin pigmentation Biparietal narrowing Retinal dystrophy Retinal detachment Pigmentary retinopathy Sloping forehead Optic disc pallor Pachygyria Abnormality of retinal pigmentation Lymphedema Cone/cone-rod dystrophy Abnormality of neuronal migration Cortical gyral simplification Abnormal eyelash morphology Cerebral calcification Vitreoretinopathy Retinal fold Chorioretinal dysplasia Sensorineural hearing impairment Dementia Gait ataxia High forehead Wide mouth Thick vermilion border Neurodegeneration Prominent nose Talipes calcaneovarus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Lactic acidosis, related diseases and genetic alterations