Hyperreflexia, and Osteoporosis

Diseases related with Hyperreflexia and Osteoporosis

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

Top matches:

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Other less relevant matches:

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Low match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Hyperreflexia and Osteoporosis

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

Other less frequent symptoms

Patients with Hyperreflexia and Osteoporosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Kyphosis Abnormal pyramidal sign Neurodegeneration Brachycephaly Cataract Hypertonia Intellectual disability, severe Muscular hypotonia Ataxia Nystagmus Failure to thrive Delayed speech and language development Micrognathia Aggressive behavior Congenital cataract Gait disturbance Cryptorchidism Narrow mouth Corneal opacity Hearing impairment Macrotia Abnormality of the cerebral white matter Agenesis of corpus callosum Hypoplasia of the corpus callosum Scoliosis Microcephaly Hypertelorism Tremor Anteverted nares Cerebellar atrophy Osteopenia Midface retrusion Thin vermilion border Neurodevelopmental delay Delayed skeletal maturation Muscle weakness Posteriorly rotated ears Behavioral abnormality Dystonia High palate Cerebral atrophy Ptosis Deeply set eye Prominent nasal bridge Cerebral calcification Macrocephaly Kyphoscoliosis Prominent forehead Cerebellar hypoplasia Microphthalmia Long philtrum Myopia Wide nasal bridge Dysarthria Cognitive impairment Strabismus Dysmetria Sparse hair Skeletal muscle atrophy Hernia Dementia Malar flattening

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Hydrocephalus Arthrogryposis multiplex congenita Vomiting Blepharophimosis Camptodactyly Broad forehead Muscular hypotonia of the trunk Abnormality of the skeletal system Downturned corners of mouth Decreased body weight Abnormal form of the vertebral bodies Fine hair Delayed myelination Restlessness Generalized osteoporosis Osteolysis Ventriculomegaly Conductive hearing impairment Hepatomegaly Hypothyroidism Thoracic kyphosis Splenomegaly Postnatal growth retardation Intellectual disability, profound Prominent nose Pectus excavatum Low-set ears Talipes equinovarus Abnormality of the dentition Overlapping toe Bilateral cryptorchidism Hyperextensible skin Short palpebral fissure Convex nasal ridge Joint hypermobility Difficulty walking Protruding ear Distal amyotrophy Frontal bossing Hypogonadism Absent speech Severe short stature Inguinal hernia Hyperhidrosis Autism High forehead Anemia Knee flexion contracture Joint laxity Coxa valga Elbow flexion contracture Recurrent respiratory infections Thin skin Hemiparesis Gait ataxia Intention tremor Poor speech Pseudobulbar paralysis Progressive cerebellar ataxia Malabsorption Dysphagia Encephalopathy Mental deterioration Rigidity Pallor Unsteady gait EEG abnormality Developmental regression Babinski sign Spastic gait Myoclonus Depressivity Intellectual disability, mild Diarrhea Respiratory insufficiency Progressive neurologic deterioration Cerebral visual impairment Peripheral neuropathy Abnormal cerebellum morphology Tetraparesis Abnormality of extrapyramidal motor function Peripheral demyelination Optic atrophy Ophthalmoplegia Abnormality of the periventricular white matter Hip dysplasia Visual impairment Cholelithiasis Narrow chest Polar cataract Corneal arcus Wide cranial sutures Dermal translucency Calcaneovalgus deformity Abnormal palate morphology Schizophrenia Excessive wrinkled skin Narrow nasal ridge Hypoplasia of the maxilla Nevus Self-injurious behavior Overlapping fingers Premature skin wrinkling Otitis media Melanocytic nevus Hypoargininemia Prominent superficial blood vessels Plagiocephaly Areflexia Progeroid facial appearance Genu valgum Thickened skin Synophrys Diabetes mellitus Gynecomastia Pes cavus Myopathy Neoplasm Clonus Hypergonadotropic hypogonadism Short distal phalanx of finger Bradykinesia Paraparesis Spastic paraparesis Sparse scalp hair Thick lower lip vermilion Xanthomatosis Severe failure to thrive Anterior beaking of thoracic vertebrae Umbilical hernia Mandibular prognathia Respiratory failure Patent ductus arteriosus Visual loss Atrial septal defect Ventricular septal defect Generalized-onset seizure Intrauterine growth retardation Depressed nasal bridge Glycopeptiduria Scarring Tortuosity of conjunctival vessels Elevated sweat chloride Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormal globus pallidus morphology Angiokeratoma corporis diffusum Inability to walk Hip dislocation Severe intrauterine growth retardation Hyperammonemia Subcapsular cataract Prematurely aged appearance Thin ribs Reduced subcutaneous adipose tissue Multiple joint contractures Mild short stature Athetosis Redundant skin Poor suck Adducted thumb Cutis laxa Abnormality of skin pigmentation Opacification of the corneal stroma Wormian bones Congenital hip dislocation Wide anterior fontanel Large fontanelles Blue sclerae Decreased fetal movement Hypotelorism Underdeveloped nasal alae Triangular face Congenital glaucoma Hip contracture Metatarsus adductus Increased antibody level in blood Exertional dyspnea Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Opisthotonus Pulmonary fibrosis Aseptic necrosis Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Hypoalbuminemia Increased susceptibility to fractures Leukopenia Oculomotor apraxia Increased bone mineral density Lymphopenia Bone pain Abnormal heart valve morphology Hepatocellular carcinoma Epistaxis Spontaneous hematomas Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Slow saccadic eye movements Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Hydrops fetalis Pulmonary arterial hypertension Anonychia Broad face Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Tics Dystrophic fingernails Progressive gait ataxia Torus palatinus Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Abnormality of the gallbladder Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Motor tics Posterior scalloping of vertebral bodies Pancytopenia Generalized tonic-clonic seizures Cyanosis Syncope Abnormal bleeding Generalized myoclonic seizures Abdominal distention Ascites Hematuria Cirrhosis Lymphadenopathy Abnormality of eye movement Delayed puberty Proteinuria Absent facial hair Hepatosplenomegaly Dyspnea Abdominal pain Arrhythmia Thrombocytopenia Congestive heart failure Edema Fatigue Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Oligosacchariduria Lipoatrophy Progressive psychomotor deterioration Neonatal hypotonia Diffuse white matter abnormalities Knee pain Brain atrophy Tetraplegia Microcornea Polymicrogyria Pseudobulbar signs Severe global developmental delay Diffuse leukoencephalopathy Coloboma Retrognathia Pachygyria Diffuse demyelination of the cerebral white matter Micropenis Cerebral cortical atrophy Glaucoma Arteriosclerosis of small cerebral arteries Upslanted palpebral fissure Epicanthus Motor delay Second metatarsal posteriorly placed Deep longitudinal plantar crease Hypertrichosis Postnatal microcephaly Miosis Anteverted ears Brachydactyly Feeding difficulties Progressive encephalopathy Cleft palate Stroke-like episode Microphakia Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Hyperglycinuria Abnormal pupil morphology Progressive muscle weakness Retinal coloboma Enlarged cisterna magna External genital hypoplasia Cortical dysplasia Spastic ataxia Spastic diplegia Low back pain Arteriosclerosis Cerebral palsy Spastic tetraparesis Long ear Osteopetrosis Urinary urgency EEG with generalized slow activity Atherosclerosis Hypercholesterolemia Abnormality of vision Sensorineural hearing impairment Agitation Delusions Frontotemporal dementia Angina pectoris Abnormality of central somatosensory evoked potentials Tuberous xanthoma Abnormality of the dentate nucleus Truncal ataxia Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Xanthelasma Myelopathy Decreased HDL cholesterol concentration Joint dislocation Hallucinations Abnormality of the ear Joint stiffness Rocker bottom foot Congenital muscular dystrophy Jaundice Abnormality of the eye Joint contracture of the hand Insulin resistance Cutaneous photosensitivity Sloping forehead Neuronal loss in central nervous system Wide intermamillary distance Neurological speech impairment Nephrolithiasis Gliosis Hirsutism Spastic paraplegia Muscular dystrophy Paraplegia Parkinsonism Hepatitis Optic disc pallor Myocardial infarction Cholestasis Chronic diarrhea Gaze-evoked nystagmus Emotional lability Angiokeratoma Hypertension Highly arched eyebrow Dry skin Status epilepticus Coarse facial features Skeletal dysplasia Hyperkeratosis Infantile muscular hypotonia Brisk reflexes Recurrent infections Pain Narrow jaw Abnormality of the cardiovascular system Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Macroglossia Cardiomegaly Cleft soft palate Acrocyanosis Broad long bones Generalized hyperkeratosis Vascular skin abnormality Cerebral hypomyelination Abnormality of the abdominal wall Vacuolated lymphocytes Mucopolysacchariduria Abnormal cornea morphology Visceromegaly Dysostosis multiplex Hypoplasia of the odontoid process Spastic tetraplegia Precocious atherosclerosis Decreased muscle mass Anhidrosis Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the nail Gingival overgrowth Telangiectasia Narrow forehead Apraxia Excessive salivation Conical tooth Apathy Short philtrum Short palm Thick eyebrow Bulbous nose Long face Arachnodactyly Smooth philtrum Talipes Joint hyperflexibility Facial asymmetry Abnormality of the foot Attention deficit hyperactivity disorder Stroke Urinary incontinence Memory impairment Anxiety Thin upper lip vermilion Hyperactivity Clinodactyly of the 5th finger Diplopia Leukoencephalopathy Slurred speech Back pain Wide nose Sleep disturbance Broad hallux phalanx Relative macrocephaly Short columella Self-mutilation Narrow nose Alopecia Abnormality of digit Long nose Myopathic facies Bilateral talipes equinovarus Abnormality of dental morphology Dermal atrophy Tented upper lip vermilion Ectodermal dysplasia Oligodontia Drooling Microretrognathia Long eyelashes Dental crowding Broad thumb Broad-based gait Decreased testicular size Febrile seizures Nail dysplasia Dental malocclusion Sleep myoclonus


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