Hypertelorism, and Dementia

Diseases related with Hypertelorism and Dementia

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

Top matches:

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Other less relevant matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Medium match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Dementia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Dementia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Optic atrophy Psychomotor deterioration Depressed nasal bridge Hyperreflexia Dysphagia Generalized hypotonia Ventriculomegaly Mental deterioration Hypertrichosis Sensorineural hearing impairment Microcephaly Intellectual disability, mild Scoliosis Downslanted palpebral fissures High palate Failure to thrive Long philtrum Spasticity Low-set ears Feeding difficulties Blindness Abnormality of the skeletal system Frontal bossing Constipation Hepatomegaly Skeletal muscle atrophy Kyphosis Bilateral sensorineural hearing impairment Muscular hypotonia Abnormal facial shape Muscle weakness Nystagmus Congestive heart failure Coarse facial features Hypertonia Diarrhea Motor delay Developmental regression Hypoplasia of the corpus callosum Delayed speech and language development Neurodegeneration Dysarthria Ptosis Cataract Generalized hirsutism Dilatation Growth delay Strabismus Ataxia Hirsutism Dolichocephaly High forehead Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Rod-cone dystrophy Pectus excavatum Aortic aneurysm Respiratory insufficiency Bilateral ptosis Clinodactyly of the 5th finger Thin upper lip vermilion Gait disturbance Neurological speech impairment Agenesis of corpus callosum Peripheral neuropathy Anemia Visual impairment Growth abnormality Respiratory distress Cognitive impairment Delayed puberty Behavioral abnormality Hyperactivity Lactic acidosis Synophrys Polyneuropathy Coma Epicanthus Protruding ear Vomiting Cerebellar atrophy Delayed skeletal maturation Broad-based gait Hypogonadism Diabetes mellitus Highly arched eyebrow Cerebral cortical atrophy Hallucinations Gait ataxia Autism Purpura Amenorrhea Hypothyroidism Increased serum lactate Elevated serum creatine phosphokinase Sparse eyebrow Acidosis Gastroesophageal reflux Prominent nose Encephalopathy Facial asymmetry Cerebral atrophy Severe global developmental delay Short toe Anxiety Hypogonadotrophic hypogonadism Intellectual disability, moderate Telecanthus Thickened ribs Psychosis Infantile muscular hypotonia Postnatal growth retardation Corneal opacity Absent speech Joint stiffness Hypertrophic cardiomyopathy Intellectual disability, profound Hepatosplenomegaly Micrognathia Macrotia Coarse hair Weight loss Cerebellar hypoplasia Kyphoscoliosis Sparse hair Splenomegaly Carious teeth Polymicrogyria Cardiomyopathy Short neck Tremor Broad nasal tip Dilated cardiomyopathy Abnormality of movement Macroglossia Gingival overgrowth Dysostosis multiplex Generalized dystonia Bundle branch block Progressive neurologic deterioration Intrauterine growth retardation Heart block Spastic tetraplegia Inguinal hernia Short nose Poor fine motor coordination Abnormal cochlea morphology Homonymous hemianopia Paralytic ileus Progressive night blindness Severe lactic acidosis Poor gross motor coordination Hyperalaninemia Increased serum pyruvate Projectile vomiting Subependymal cysts Abnormal mitochondrial shape Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Cochlear degeneration Cochlear malformation Hernia CNS hypomyelination Umbilical hernia Paronychia Alopecia Babinski sign Abnormality of metabolism/homeostasis Spotty hypopigmentation Cellular metachromasia Dense calvaria Ovoid thoracolumbar vertebrae Heparan sulfate excretion in urine Respiratory tract infection Asymmetric septal hypertrophy Motor deterioration Loss of speech Restlessness Sleep disturbance Everted lower lip vermilion Abnormal mitochondrial morphology Edema of the dorsum of hands Recurrent upper respiratory tract infections Prominent ear helix Corpus callosum atrophy Neuronal loss in central nervous system Bulbar signs Achalasia Externally rotated hips Muscular hypotonia of the trunk Neonatal hypotonia Upslanted palpebral fissure Tetraplegia Gliosis Delayed myelination Hypsarrhythmia Abnormality of eye movement Postnatal microcephaly Fasciculations Tongue fasciculations Severe muscular hypotonia Diffuse cerebral atrophy Chronic constipation Facial hypotonia Atrophy/Degeneration affecting the brainstem Micropenis Cortical dysplasia Spastic paraplegia Unsteady gait Abnormality of acid-base homeostasis Cleft palate Episodic quadriplegia Bilateral intracranial calcifications Poor coordination Lipoma Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Widely spaced teeth Trigonocephaly Hemolytic anemia Immunodeficiency Cleft lip Small for gestational age Micromelia Oral cleft Cleft upper lip Mild global developmental delay Tetraparesis Hypoplastic scapulae Metabolic acidosis Cortical gyral simplification Flat face Camptodactyly Brachydactyly Coloboma Hydronephrosis Pes planus Abnormal heart morphology Patent ductus arteriosus Microphthalmia Intellectual disability, severe Atrial septal defect Talipes equinovarus Ventricular septal defect Macrocephaly Myopia Elbow hypertrichosis Joint hyperflexibility Dilatation of renal calices Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Anteverted ears Abnormal corpus callosum morphology Broad philtrum Short attention span Depressed nasal tip Hip dislocation Long face Narrow nose Chorioretinal coloboma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Unilateral renal agenesis Relative macrocephaly Iris coloboma Genu varum Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Aortic regurgitation Short chin Dental crowding Thick lower lip vermilion Progressive visual loss Convex nasal ridge Renal agenesis Esotropia Microcornea Abnormality of the elbow Narrow nasal bridge Prominent nasal bridge Hyperlipidemia Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Hypergonadotropic hypogonadism Decreased serum insulin-like growth factor 1 Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Dehydration Decreased testicular size Dental malocclusion Triangular face Sensory neuropathy Hypotrichosis Streak ovary Progressive extrapyramidal movement disorder Short middle phalanx of finger Round face Abnormality of the hand Delayed gross motor development Sacral dimple Accelerated skeletal maturation Narrow palpebral fissure Finger clinodactyly Rhizomelia Stereotypy Long eyelashes Short palpebral fissure Growth hormone deficiency Webbed neck Tapered finger Hypoplasia of the fallopian tube Wide nose Thick eyebrow Hemeralopia Thin vermilion border Short philtrum Blepharophimosis Aggressive behavior Narrow mouth Brachycephaly Prominent forehead Clinodactyly Wide nasal bridge Progressive alopecia Abnormal macular morphology Progressive sensorineural hearing impairment Crohn's disease Myoclonus Erythema Abnormality of the pinna Feeding difficulties in infancy Apnea Proteinuria Myalgia EEG abnormality Photophobia Jaundice Dyspnea Abdominal pain Osteoporosis Hyporeflexia Nyctalopia Areflexia Arrhythmia Visual loss Depressivity Headache Renal insufficiency Abnormality of the dentition Myopathy Fatigue Fever Hypertension Pain Abnormality of the liver Attention deficit hyperactivity disorder Decreased beta-galactosidase activity Peripheral axonal neuropathy Specific learning disability Hip dysplasia Memory impairment Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Nephropathy Nausea Vertigo Stroke Ichthyosis Confusion Paresthesia Dysmetria Anal atresia Malabsorption Nausea and vomiting Congenital cataract Ophthalmoplegia Lethargy Generalized tonic-clonic seizures Pruritus Abnormality of ganglioside metabolism Cerebral degeneration Pigmentary retinopathy Emphysema Abnormality of the intrinsic pathway Thick cerebral cortex Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Excessive wrinkled skin Thick hair Delayed closure of the anterior fontanelle Redundant neck skin Generalized joint laxity Decreased muscle mass Lipodystrophy Subretinal pigment epithelium hemorrhage Redundant skin Cutis laxa Lissencephaly Congenital hip dislocation Progressive microcephaly Pachygyria High myopia Dandy-Walker malformation Smooth philtrum Poor speech Malar flattening Anteverted nares Fragmented elastic fibers in the dermis Abnormal apolipoprotein level Abnormality of the scrotum Abnormality of the urinary system Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Beaking of vertebral bodies Abnormal heart valve morphology Encephalitis Abnormality of epiphysis morphology Recurrent respiratory infections Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Cardiomegaly Abnormality of the skin Abdominal distention Camptodactyly of finger Hyperlordosis Arthralgia Skeletal dysplasia Mandibular prognathia Severe short stature Cerebral calcification Abnormality of the cardiovascular system Abnormality of the cerebellar vermis Hypoparathyroidism Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Xerostomia Cerebral ischemia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Wolff-Parkinson-White syndrome Reduced consciousness/confusion Basal ganglia calcification Dysesthesia Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Motor polyneuropathy Gait imbalance Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Hyperthyroidism Glomerulopathy Generalized-onset seizure Clonus Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Exercise intolerance Type I diabetes mellitus EMG abnormality Truncal ataxia Cardiac arrest Cerebral visual impairment Schizophrenia Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Mutism Goiter Vertebral fusion Mask-like facies Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Hyperkinesis Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Easy fatigability Posterior staphyloma


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