Cognitive impairment, and Proptosis

Diseases related with Cognitive impairment and Proptosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Proptosis that can help you solving undiagnosed cases.


Top matches:

Medium match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Medium match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Medium match MACHADO-JOSEPH DISEASE TYPE 1


Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

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Other less relevant matches:

Medium match MACHADO-JOSEPH DISEASE TYPE 2


Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

Medium match MACHADO-JOSEPH DISEASE TYPE 3


Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Medium match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Medium match MACHADO-JOSEPH DISEASE; MJD


Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Top 5 symptoms//phenotypes associated to Cognitive impairment and Proptosis

Symptoms // Phenotype % cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Muscle cramps Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Proptosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Babinski sign Abnormal pyramidal sign Progressive cerebellar ataxia Spasticity Abnormality of extrapyramidal motor function Gaze-evoked nystagmus Progressive external ophthalmoplegia Spinocerebellar tract degeneration Dilated fourth ventricle Supranuclear ophthalmoplegia Facial-lingual fasciculations Delayed speech and language development Diplopia Depressed nasal bridge Abnormality of temperature regulation Ptosis Peripheral neuropathy Hyperreflexia Malar flattening Degeneration of the striatum Substantia nigra gliosis Upper motor neuron dysfunction Hypertelorism Sleep disturbance Neurogenic bladder Memory impairment Distal lower limb amyotrophy Clumsiness Vocal cord paralysis Progressive gait ataxia Vestibular dysfunction Hearing impairment Frontal bossing Hydrocephalus Tall stature Optic atrophy Overgrowth

Rare Symptoms - Less than 30% cases


Abnormal facial shape Patent ductus arteriosus Short stature Abnormal cerebellum morphology Brachydactyly Skeletal dysplasia Midface retrusion Wide nasal bridge Mandibular prognathia Ataxia Gait ataxia Kyphosis Ventriculomegaly Intellectual disability Seizures Macrocephaly Global developmental delay High forehead Anxiety Depressivity Long foot Nystagmus Prominent forehead Scoliosis Cloverleaf skull Downslanted palpebral fissures Hallucinations Limitation of joint mobility Finger syndactyly Occipital encephalocele Muscular hypotonia Cortically dense long tubular bones Abnormality of neuronal migration Flared metaphysis Metaphyseal irregularity Short thorax Fingernail dysplasia Facial palsy secondary to cranial hyperostosis Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Disproportionate short-limb short stature Curved distal phalanges of the hand Small face Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Redundant skin Polyhydramnios Respiratory insufficiency Decreased fetal movement Small abnormally formed scapulae Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Joint hyperflexibility Micromelia Flat face Abnormality of the metaphysis Atrial septal defect Sclerotic scapulae Narrow chest Platyspondyly Encephalocele Abnormality of the kidney Short ribs Acanthosis nigricans Holoprosencephaly Diaphyseal thickening Severe short stature Small foramen magnum Truncal ataxia Wide-cupped costochondral junctions Tongue fasciculations Spinal muscular atrophy Ophthalmoparesis Akinesia Impaired vibratory sensation Amyotrophic lateral sclerosis Decreased number of peripheral myelinated nerve fibers Atrophy/Degeneration affecting the brainstem Urinary bladder sphincter dysfunction Delusions Absent Achilles reflex Spastic dysarthria Olivopontocerebellar atrophy External ophthalmoplegia Myokymia Low back pain Chronic pain Torsion dystonia Hypometric saccades Restless legs Dysmetric saccades Delirium Downbeat nystagmus Impaired horizontal smooth pursuit Palatal myoclonus Back pain Abnormal autonomic nervous system physiology Pain Unsteady gait Flexion contracture Visual impairment Tremor Dementia Myoclonus Diabetes mellitus Rigidity Abnormality of the eye Leukemia Ophthalmoplegia Abnormality of eye movement Confusion Abnormality of the nose Distal amyotrophy Sensory neuropathy Neurodegeneration Polyneuropathy Postural instability Parkinsonism Gliosis Neuronal loss in central nervous system Bradykinesia Limb ataxia Fasciculations Craniofacial hyperostosis Abnormal cardiac septum morphology Abnormal cortical bone morphology Kyphoscoliosis Generalized hypotonia Low-set ears High palate Myopia Absent speech Cerebellar hypoplasia Posteriorly rotated ears Upslanted palpebral fissure Cerebral cortical atrophy Macrotia Pes planus Abnormal lower motor neuron morphology Difficulty walking Joint laxity Hyperlordosis Prominent nasal bridge Arachnodactyly Long face Triangular face High myopia Lumbar hyperlordosis Sparse eyebrow Degeneration of anterior horn cells EMG abnormality Disproportionate tall stature Cerebral calcification Low-set, posteriorly rotated ears Craniosynostosis Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Craniofacial dysostosis Elbow ankylosis Neoplasm Thin upper lip vermilion Progressive neurologic deterioration Peripheral axonal neuropathy Thin skin Pointed chin Hyperextensible skin Prominent supraorbital ridges Narrow nasal bridge Fragile skin Thoracolumbar scoliosis Xanthelasma Auditory hallucinations Distal muscle weakness Large hands Long fingers Broad ribs Paralysis Chronic lung disease Thick hair Recurrent aspiration pneumonia Strabismus Sensorineural hearing impairment Syndactyly Headache Visual loss Hyperactivity Facial palsy Dental malocclusion Aspiration pneumonia Esotropia Nail dysplasia Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Hyperostosis Abnormal cranial nerve morphology Tracheal stenosis Laryngomalacia Megalencephaly Short nose Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Cataract Cryptorchidism Abnormality of the skeletal system Obesity Horseshoe kidney Pneumonia Gastroesophageal reflux Coarse facial features Thick eyebrow Downturned corners of mouth Vesicoureteral reflux Round face Abnormal lung morphology Long eyelashes Abnormal vertebral morphology Aspiration Abnormal electrooculogram



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