Intellectual disability, severe, and Retinal detachment

Diseases related with Intellectual disability, severe and Retinal detachment

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

Top 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

High match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

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

Other less relevant matches:

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

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Glaucoma

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Generalized hypotonia Visual impairment Sensorineural hearing impairment Scoliosis Blindness Microcephaly Corneal opacity Retinal dysplasia Cleft palate Hearing impairment Protruding ear Retinopathy Myopia Muscle weakness Cryptorchidism Visual loss Cleft lip Macrocephaly Hydrocephalus Agenesis of corpus callosum Proptosis Retinal fold Coloboma Congenital cataract Iris coloboma Microcornea Cerebellar vermis hypoplasia Atrial septal defect Ptosis Chorioretinal dysplasia Cleft upper lip Vitreoretinopathy Retinal dystrophy Pachygyria Strabismus Hyperreflexia Anteverted nares Hypertonia Cerebellar hypoplasia Wide nasal bridge Intrauterine growth retardation Spasticity

Rare Symptoms - Less than 30% cases

Flexion contracture Hydronephrosis Polymicrogyria Oral cleft Depressed nasal bridge Short stature Abnormal facial shape Abnormality of the cerebral white matter Muscular dystrophy Micrognathia Abnormal vitreous humor morphology Pigmentary retinopathy Cerebral cortical atrophy Elevated serum creatine phosphokinase Areflexia Dilatation Sloping forehead Hypoplasia of the corpus callosum Ventriculomegaly Transposition of the great arteries Skeletal muscle atrophy Myopathy Dandy-Walker malformation Bifid uvula Bilateral cleft lip Pectus excavatum Rigidity Neonatal hypotonia Camptodactyly of finger Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Hypermetropia Pulmonic stenosis Buphthalmos Preauricular skin tag Downslanted palpebral fissures Congenital hip dislocation EMG abnormality Abnormal eyelash morphology Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Optic nerve hypoplasia Lissencephaly Renal dysplasia Encephalocele Hypoplasia of penis Specific learning disability Epicanthus Hypertelorism Exudative vitreoretinopathy Intellectual disability, profound Pointed chin Lymphedema Aggressive behavior Thick vermilion border Broad nasal tip Abnormality of retinal pigmentation Overgrowth Macrotia Mandibular prognathia EEG abnormality Sleep disturbance Thin vermilion border Remnants of the hyaloid vascular system Attention deficit hyperactivity disorder Irritability Short nose Aplasia/Hypoplasia of the cerebellum Wide nose Reduced visual acuity Long philtrum Neoplasm Growth delay Cortical gyral simplification Abnormality of neuronal migration Abnormality of the helix Intellectual disability, mild Upslanted palpebral fissure Abnormality of the voice Clumsiness Talipes equinovarus Cardiomyopathy Retinal thinning Abnormality of the hand Short neck Omphalocele Relative macrocephaly Abnormality of the genital system Broad thumb Ventricular septal defect Hoarse voice Abnormality of the skeletal system Hepatomegaly Accelerated skeletal maturation Tall stature Cerebral visual impairment Myopic astigmatism Narrow palpebral fissure Short toe Multicystic kidney dysplasia Hypertension Chorioretinal lacunae Cardiac arrest Melanonychia Abnormality of the dentition Hernia Small nail Postaxial polydactyly Macroglossia Umbilical hernia Hypoglycemia Cupped ear Renal cyst Short foot High, narrow palate Short distal phalanx of finger Polyhydramnios Short palm Facial asymmetry Toe syndactyly Finger syndactyly Low-set, posteriorly rotated ears Wide mouth Neurological speech impairment Coarse facial features Intestinal malrotation Splenomegaly Arrhythmia Abnormality of the ribs Syndactyly Abnormality of cardiovascular system morphology Obesity Hypospadias Congenital diaphragmatic hernia Patent ductus arteriosus Abnormal heart morphology Hypothyroidism Postaxial hand polydactyly Inguinal hernia Nail dysplasia Clinodactyly of the 5th finger Webbed neck Polydactyly Dental malocclusion Nephroblastoma Increased IgE level Preauricular pit Platyspondyly Tremor Dysarthria Ataxia Abnormality of vertebral epiphysis morphology Abnormality of epiphysis morphology Osteoarthritis Mitral valve prolapse Hypoplasia of the maxilla Joint hyperflexibility Arthralgia Cerebellar atrophy Skeletal dysplasia Hypermetric saccades Neural tube defect Bilateral cleft lip and palate Posterior embryotoxon Chorioretinal coloboma Hematuria Pendular nystagmus Esotropia Fatigue Pes cavus Cyst of the ductus choledochus Horizontal nystagmus Dysmetric saccades Saccadic smooth pursuit Leg muscle stiffness Slow saccadic eye movements Progressive gait ataxia Ankle clonus Brisk reflexes Slurred speech Macular degeneration Truncal ataxia Gait ataxia Fasciculations Diplopia Limb ataxia Broad-based gait Intention tremor Generalized-onset seizure Progressive cerebellar ataxia Dysmetria Intellectual disability, moderate Two carpal ossification centers present at birth Cleft lower lip Large for gestational age Abnormal lung lobation Flared iliac wings Furrowed tongue Renal neoplasm Duodenal atresia Diastasis recti Polysplenia Low hanging columella Broad foot Enlarged kidney Neuroblastoma Ureteral duplication Broad palm Abnormality of digit Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Bundle branch block Hydroureter Bilateral talipes equinovarus Aplasia/Hypoplasia of the abdominal wall musculature Ankyloglossia Submucous cleft lip Short sacroiliac notch Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short 2nd finger Chordee Downbeat nystagmus Penoscrotal hypospadias Broad toe Abnormal enzyme/coenzyme activity Embryonal neoplasm Hepatoblastoma Erysipelas Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Panniculitis Skeletal muscle hypertrophy Abnormal nasolacrimal system morphology Corneal degeneration Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Posterior synechiae of the anterior chamber Low-set ears Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Retinoblastoma Venous insufficiency Vascular neoplasm Frontal bossing Abnormal pupil morphology Occipital encephalocele Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Abnormal cortical gyration Megalocornea Retinal atrophy Submucous cleft hard palate Absent septum pellucidum Hyporeflexia Congenital glaucoma Congenital contracture Atresia of the external auditory canal Severe muscular hypotonia Heterotopia Anal atresia Microtia Posteriorly rotated ears Anterior synechiae of the anterior chamber Abnormality of the retinal vasculature Excessive daytime sleepiness Myoclonus Developmental regression Abnormality of the eye Abnormality of the nervous system Anxiety Deeply set eye Autism Diabetes mellitus Dementia Confusion Malar flattening Behavioral abnormality Failure to thrive Biparietal narrowing Cone/cone-rod dystrophy Optic disc pallor Abnormality of skin pigmentation Cerebral atrophy Delayed puberty Retinal degeneration Sclerocornea Ectopia lentis Abnormality of the vasculature Hypoplasia of the iris Severe vision loss Abnormality of immune system physiology Narrow nasal bridge Abnormal retinal morphology Self-injurious behavior Cachexia Migraine Progressive hearing impairment Intellectual disability, progressive Opacification of the corneal stroma Clonus Hallucinations Stereotypy Psychosis Hypotelorism Muscle fiber splitting Posterior fossa cyst Prominent nasal tip Thin upper lip vermilion Status epilepticus Bilateral sensorineural hearing impairment Lymphoma Full cheeks Dry skin Astigmatism Leukemia Hyperactivity Subcutaneous nodule Prominent forehead Severe short stature Edema Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Exaggerated startle response Myocardial fibrosis Thick lower lip vermilion Thickened skin Anencephaly Chorioretinal atrophy Congenital microcephaly Chylothorax Leukonychia Abnormal toenail morphology Gangrene Underdeveloped supraorbital ridges Cellulitis Agitation Amblyopia Flat occiput Scaling skin Patent foramen ovale Bilateral ptosis Deep philtrum Venous thrombosis Muscle stiffness Skin ulcer Ankle contracture Atrophy/Degeneration affecting the brainstem Meningoencephalocele Abnormal aldolase level Apnea Brachycephaly Respiratory distress Respiratory insufficiency Gait disturbance Motor delay Delayed speech and language development Thick cerebral cortex Hip dislocation Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Abnormality of the pinna Dilated cardiomyopathy Weak cry Aplasia/Hypoplasia of the corpus callosum Spinal rigidity Cortical dysplasia Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Mask-like facies Plagiocephaly Dolichocephaly Holoprosencephaly Knee flexion contracture Hemivertebrae Bradycardia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Arthrogryposis multiplex congenita Tortuosity of conjunctival vessels


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