Hyperreflexia, and Facial asymmetry

Diseases related with Hyperreflexia and Facial asymmetry

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match OTOFACIOCERVICAL SYNDROME


Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Low match 2Q32Q33 MICRODELETION SYNDROME


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 MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Hyperreflexia and Facial asymmetry

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system High palate Short stature Ataxia Hypopigmentation of the skin Downslanted palpebral fissures Nystagmus Talipes equinovarus Seizures Gait ataxia Anteverted nares Frontal bossing Hypertelorism Spasticity Visual impairment Cognitive impairment Motor delay Corneal opacity Low anterior hairline Ventriculomegaly Hepatomegaly Growth delay Kyphosis Microcephaly Thick eyebrow Macrocephaly Hydrocephalus Vertigo Abnormality of the foot Hypertrophic cardiomyopathy Kyphoscoliosis Scoliosis Poor speech Epicanthus Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Pes planus Hyperactivity Generalized hypotonia Dysphagia Brachydactyly Muscular hypotonia Micrognathia Abnormal facial shape Dysarthria Low-set ears Postnatal growth retardation Limb ataxia Intellectual disability, mild Cerebellar atrophy Neurological speech impairment Abnormality of movement

Rare Symptoms - Less than 30% cases


Dysdiadochokinesis Feeding difficulties Glucose intolerance Short palm Intention tremor Inguinal hernia Dilatation Hearing abnormality Delayed speech and language development Microphthalmia Neoplasm Clinodactyly of the 5th finger Gait disturbance Broad-based gait Hernia Hypopigmented skin patches Craniofacial asymmetry Umbilical hernia Behavioral abnormality Recurrent infections Short nose Macrotia Proptosis Absent radius Brachycephaly Severe short stature Midface retrusion Syndactyly Dental crowding Hemimegalencephaly Insulin resistance Malar flattening Ophthalmoplegia Long philtrum Broad forehead Peripheral axonal neuropathy Aggressive behavior Thin upper lip vermilion Progressive cerebellar ataxia High forehead Upslanted palpebral fissure Clinodactyly Reduced tendon reflexes Short palpebral fissure Osteopenia Carcinoma Anxiety Diabetes mellitus Optic atrophy Slurred speech Short neck Cataract Hypertonia Febrile seizures Arrhythmia Tracheoesophageal fistula Incomprehensible speech Narrow nose Cardiomyopathy Horseshoe kidney Flexion contracture Renal hypoplasia/aplasia Abnormality of vision Cleft palate Babinski sign Long face Plagiocephaly Abnormality of dental morphology Congestive heart failure Neurodegeneration Hypoplasia of the corpus callosum Dental malocclusion Abnormality of the nervous system Irregular hyperpigmentation Involuntary movements Abnormal cerebellum morphology Hyperactive deep tendon reflexes High, narrow palate Unsteady gait Abnormality of the eye Synophrys Respiratory distress Talipes Abnormality of finger Reduced visual acuity Absent speech Muscular hypotonia of the trunk Abnormal pyramidal sign Fatigue Cerebral cortical atrophy Coloboma Mandibular prognathia Median cleft palate Edema Conspicuously happy disposition Narrow jaw Narrow maxilla Splenomegaly Dacryocystitis Large beaked nose Sparse hair Nevus sebaceus Macroglossia Widely spaced teeth Opacification of the corneal stroma Cardiac arrest Hydrops fetalis Gingival overgrowth Hypertrichosis Lumbar hyperlordosis Spastic tetraplegia Hip dysplasia Webbed neck Tetraplegia Dyspnea Ascites Hirsutism Genu valgum Platyspondyly Pectus carinatum Respiratory tract infection Hyperlordosis Intellectual disability, moderate Hepatosplenomegaly Skeletal dysplasia Polyhydramnios Coarse facial features Oligodontia Toe clinodactyly Camptodactyly Hyperhidrosis Thin skin Hemiparesis Fine hair Narrow mouth Autism Intellectual disability, profound Decreased testicular size Convex nasal ridge Nail dysplasia Joint laxity Prominent nose Broad thumb Ectodermal dysplasia Sleep disturbance Downturned corners of mouth Wide nose Bulbous nose Thin vermilion border Arachnodactyly Smooth philtrum Joint hyperflexibility Abnormality of the cerebral white matter Prominent nasal bridge Short philtrum Osteoporosis Long eyelashes Happy demeanor Abnormality of digit Pes valgus Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Restlessness Long nose Posteriorly rotated ears Myopathic facies Wide nasal bridge Bilateral talipes equinovarus Overlapping toe Dermal atrophy Relative macrocephaly Tented upper lip vermilion Drooling Intellectual disability, severe Abnormality of the dentition Microretrognathia Pterygium Recurrent upper respiratory tract infections Small for gestational age Pleural effusion Myeloid leukemia Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage External ear malformation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Absent thumb Bicornuate uterus Reduced bone mineral density Hypergonadotropic hypogonadism Bone marrow hypocellularity Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Abnormality of the urinary system Hydroureter Hyperinsulinemia Myelodysplasia Triphalangeal thumb Hypoplasia of the ulna Squamous cell carcinoma Ectopic kidney Abnormality of the thumb Abnormality of femur morphology Abnormal vertebral morphology Clubbing of toes Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Acute monocytic leukemia Abnormal aortic morphology Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormality of nervous system morphology Complete duplication of thumb phalanx Primary hypothyroidism Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Spina bifida Short thumb Spondyloepiphyseal dysplasia J-shaped sella turcica Intrauterine growth retardation Fever Anemia Cryptorchidism Failure to thrive Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Renal insufficiency Thoracolumbar scoliosis Metatarsus adductus Mild short stature Abnormal heart valve morphology Hypoplasia of the odontoid process Thoracic kyphosis Spinal cord compression Dysostosis multiplex Prominent sternum Nonimmune hydrops fetalis Broad ribs Recurrent ear infections Pulmonary insufficiency Thoracolumbar kyphosis Acetabular dysplasia Atrial septal defect Headache Cafe-au-lait spot Sloping forehead Abnormality of skin pigmentation Bruising susceptibility Neutropenia Lymphoma Renal agenesis Tetralogy of Fallot Oligohydramnios Anal atresia Pancytopenia Choanal atresia Abnormality of the genital system Aganglionic megacolon Recurrent urinary tract infections Telangiectasia Astigmatism Toe syndactyly Abnormality of cardiovascular system morphology Hypothyroidism Thrombocytopenia Hypospadias Patent ductus arteriosus Abnormal heart morphology Hypogonadism Weight loss Abnormality of the kidney Dolichocephaly Irritability Abnormality of the liver Leukemia Odontogenic neoplasm Finger syndactyly Hip dislocation Linear nevus sebaceous Anterior plagiocephaly Odontoma Dystonia Tachycardia Dysmetria Lower limb muscle weakness Abnormality of eye movement Limb muscle weakness Dilated cardiomyopathy Pallor Difficulty walking Pes cavus Areflexia Visual loss Depressivity Peripheral neuropathy Inability to walk Pain Muscle weakness Aplasia of the 1st metacarpal Hyperacusis Obsessive-compulsive trait Mild global developmental delay Ventricular extrasystoles 2-3 toe syndactyly Obsessive-compulsive behavior Abnormality of the hand Short phalanx of finger Syncope Hypodontia Falls Sensory neuropathy Thick vermilion border Spastic paraparesis Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Visual field defect Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Cachexia Incoordination Ventricular arrhythmia Paraparesis Chest pain Muscle stiffness Truncal ataxia Spastic gait Lower limb spasticity Left ventricular hypertrophy Clumsiness Palpitations Atrial fibrillation Ventricular hypertrophy Optic disc pallor Peripheral demyelination Sensory impairment Chorea Tapered finger Short distal phalanx of finger Ketosis Abnormality of the musculature Abnormal dermatoglyphics Scapular winging Preauricular skin tag Full cheeks Protruding ear Facial palsy Conductive hearing impairment Delayed skeletal maturation Depressed nasal bridge Supranuclear ophthalmoplegia Supranuclear gaze palsy Impaired smooth pursuit Orthostatic hypotension Preauricular pit Macule Urticaria Macular degeneration Fasciculations Hypohidrosis Hypotension Abnormality of the skin Dry skin Papule Erythema Hyperkeratosis Constipation Hyporeflexia Atresia of the external auditory canal Abnormality of the clavicle Pectus excavatum Postural tremor Frontal cortical atrophy Truncal titubation Scanning speech Broad distal phalanx of finger Abnormality of the pulmonary artery Titubation Speech apraxia Hypoplasia of the fovea Hypoplasia of the iris Aniridia Brisk reflexes Mask-like facies Bilateral ptosis Abnormality of the antihelix Poor head control Apraxia Pulmonic stenosis Congenital cataract Neonatal hypotonia Cerebellar hypoplasia Cerebral atrophy Tremor Cholesteatoma Unilateral facial palsy Long neck Lacrimal duct stenosis Down-sloping shoulders Heart block Urinary bladder sphincter dysfunction Abnormality of toe Low-frequency sensorineural hearing impairment Dandy-Walker malformation Nevus Generalized muscle weakness Recurrent fractures Iris coloboma Ichthyosis Telecanthus EEG abnormality Agenesis of corpus callosum Alopecia Blindness Thimble-shaped middle phalanges of hand Unicoronal synostosis Cerebral calcification Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Overgrowth Coarctation of aorta Hypopigmentation of hair Genu recurvatum Nevus sebaceous Epidermal nevus Cranial asymmetry Abnormality of dental color Adenoma sebaceum Asymmetric growth Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Gangrene Dilatation of the cerebral artery Pachygyria Osteomalacia Biparietal narrowing Neurofibromas Basal cell carcinoma Vertebral segmentation defect Prominent occiput Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Rickets Precocious puberty Hemangioma Aplasia/Hypoplasia of the corpus callosum Exotropia Esophageal atresia Tarsal synostosis Ketoacidosis Abnormality of cardiovascular system physiology Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Positive Romberg sign Cervical spinal cord atrophy Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Muscular subvalvular aortic stenosis Mitochondrial malic enzyme reduced Hypermelanotic macule Autistic behavior Broad hallux Short middle phalanx of finger Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Increased intracranial pressure Acanthosis nigricans Bradycardia Epidermal acanthosis Bilateral sensorineural hearing impairment Short foot Craniosynostosis Apnea Decreased pyruvate carboxylase activity Prominent forehead Respiratory insufficiency Ventricular septal defect Hypertension Sensorineural hearing impairment Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Abnormality of the preputium



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