Intellectual disability, and Retinal detachment

Diseases related with Intellectual disability and Retinal detachment

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


Top matches:

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Medium match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


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

Medium match STICKLER SYNDROME TYPE 1


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

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Other less relevant matches:

Medium match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


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

Medium match NANCE-HORAN SYNDROME


Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Medium match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Medium match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


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

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

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

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Glaucoma Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Coloboma Visual impairment Myopia Microcornea Intellectual disability, moderate Generalized hypotonia Cerebellar hypoplasia Cleft palate Ptosis Pachygyria

Rare Symptoms - Less than 30% cases


Elevated serum creatine phosphokinase Hydrocephalus Pes cavus Respiratory distress Respiratory insufficiency Ventriculomegaly Protruding ear Hyperreflexia Congenital muscular dystrophy Muscular dystrophy Dandy-Walker malformation Intellectual disability, profound Lissencephaly Abnormality of epiphysis morphology Hypoplasia of the brainstem Type II lissencephaly Agyria Macrocephaly Pes planus Short stature Scoliosis Seizures Abnormality of skin pigmentation Osteoarthritis Corneal opacity Optic atrophy Iris coloboma Platyspondyly Sensorineural hearing impairment Skeletal dysplasia Reduced visual acuity Visual loss Chorioretinal coloboma Pendular nystagmus Retinal dysplasia Peters anomaly Gonadal dysgenesis Remnants of the hyaloid vascular system Weak cry Corpus callosum atrophy Spasticity Microcephaly Adducted thumb Wide nasal bridge Intrauterine growth retardation Anteverted nares Intellectual disability, severe Hypertonia Cerebral atrophy Cerebral cortical atrophy Retinopathy Partial agenesis of the corpus callosum Encephalocele Optic nerve hypoplasia Low-set ears Rhizomelia Knee flexion contracture Deep philtrum Precocious puberty Anophthalmia Sclerocornea Ectopia pupillae Periorbital fullness Monocular strabismus Frontal bossing Large fontanelles Hypoplasia of the corpus callosum Areflexia Retrognathia Deeply set eye Facial palsy Microtia Polymicrogyria Decreased fetal movement Pigmentary retinopathy Heterotopia Retinal dystrophy Optic disc pallor Sloping forehead Short thorax Abnormality of the metaphysis Increased bone mineral density Coxa vara Hemangioma Short long bone Genu varum Abnormality of the urinary system Metaphyseal irregularity Spondyloepiphyseal dysplasia Short femoral neck Abnormality of the sternum Flat face Disproportionate short stature Protuberant abdomen Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Limb undergrowth Micromelia Esotropia Retinal fold Abnormality of retinal pigmentation Lymphedema Pointed chin Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Chorioretinal dysplasia Genu valgum Hypertelorism Brachydactyly Gait disturbance Talipes equinovarus Kyphosis Hernia Inguinal hernia Severe short stature Osteopenia Hyperlordosis Pectus carinatum Long eyelashes Epicanthus Prominent forehead Tortuosity of conjunctival vessels Ankle clonus Progressive gait ataxia Slow saccadic eye movements Saccadic smooth pursuit Dysmetric saccades Leg muscle stiffness Hypermetric saccades Downbeat nystagmus Abnormal enzyme/coenzyme activity Cognitive impairment Slurred speech Blindness Abnormality of the dentition Behavioral abnormality Autism Mandibular prognathia Macrotia Autistic behavior Prominent nasal bridge Congenital cataract Long face Brisk reflexes Macular degeneration Prominent nose Gait ataxia Abnormal vitreous humor morphology Abnormality of vertebral epiphysis morphology Hypoplasia of the maxilla Ataxia Joint hyperflexibility Dysarthria Tremor Fatigue Cerebellar atrophy Intellectual disability, mild Arthralgia EMG abnormality Dysmetria Progressive cerebellar ataxia Generalized-onset seizure Intention tremor Broad-based gait Limb ataxia Diplopia Fasciculations Truncal ataxia Horizontal nystagmus Short metacarpal Short phalanx of finger Hypospadias Cleft lip Severe global developmental delay Abnormality of the cerebral white matter Hematuria High myopia Oral cleft Ventricular hypertrophy Cleft upper lip Left ventricular hypertrophy Severe muscular hypotonia Hypoplasia of the pons Bilateral cleft lip Aqueductal stenosis Cerebellar dysplasia Cerebellar cyst Hearing impairment Severe hydrocephalus Abnormal facial shape Cryptorchidism Flexion contracture Mitral valve prolapse Syndactyly Posterior embryotoxon Bilateral cleft lip and palate Narrow face Sutural cataract Widely spaced teeth Hypophosphatemia Blurred vision Narrow nasal bridge Increased number of teeth Severe vision loss Anodontia Diastema Broad finger Multiple impacted teeth Mesiodens Hyporeflexia Posterior Y-sutural cataract Supernumerary maxillary incisor Screwdriver-shaped incisors Proptosis Feeding difficulties Motor delay Long philtrum Short nose Neural tube defect Dilatation Metaphyseal dappling



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