Hyperreflexia, and Hypodontia

Diseases related with Hyperreflexia and Hypodontia

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

Top matches:

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Other less relevant matches:

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

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

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hypodontia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures 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 Hypodontia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Myopia Dysphagia Hypoplasia of the corpus callosum Nystagmus Short stature Dystonia Optic atrophy Strabismus Hypogonadotrophic hypogonadism Leukodystrophy Hearing impairment Dysarthria Babinski sign Dysmetria Delayed eruption of teeth Ventriculomegaly Developmental regression Delayed puberty Hypertonia Pes planus Motor delay Hypertelorism Pointed chin Frontal bossing Failure to thrive Wide nasal bridge Broad forehead Epicanthus Cerebral cortical atrophy Microcephaly Macrotia High palate Abnormal facial shape Intellectual disability, mild Muscular hypotonia Hypogonadism Behavioral abnormality Sensorineural hearing impairment Gait ataxia CNS hypomyelination Oligodontia Delayed speech and language development Macrocephaly Feeding difficulties Intention tremor Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Obsessive-compulsive trait Dental crowding Type II diabetes mellitus Hyperacusis Pectus excavatum Thick vermilion border Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Aggressive behavior High forehead Long philtrum Short nose Kyphosis Downslanted palpebral fissures Micrognathia Scoliosis Vesicoureteral reflux Neoplasm Congestive heart failure Precocious puberty Nephroblastoma Poor coordination Abnormal glucose tolerance Growth delay Intrauterine growth retardation Absent speech Cutis laxa Depressivity Diabetes mellitus Intellectual disability, moderate Small for gestational age Increased body weight Involuntary movements Redundant skin Abnormal dermatoglyphics Cryptorchidism Abnormality of the kidney Ventricular septal defect Atrial septal defect Patent ductus arteriosus Abnormal heart morphology Coarse facial features Joint laxity Dolichocephaly Narrow face Genu valgum Pigmentary retinopathy Otitis media Renal agenesis Overgrowth Small nail Abnormality of nervous system morphology Obsessive-compulsive behavior Neurological speech impairment Osteopenia Motor deterioration Neonatal hypotonia Irritability Retinopathy Abnormal cerebellum morphology Cyanosis Tremor Dysdiadochokinesis Reduced number of teeth Postural tremor Drooling Clumsiness Abnormality of the dentition Cerebellar atrophy Peripheral neuropathy Hepatomegaly Gait disturbance Peripheral demyelination Cerebellar hypoplasia Cognitive impairment Abnormality of lipid metabolism Posterior embryotoxon Megalocornea Insomnia Generalized tonic-clonic seizures Absent frontal sinuses Restlessness Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect J-shaped sella turcica Premature graying of hair Arnold-Chiari type I malformation Patellar dislocation Peripheral edema Right ventricular hypertrophy Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Chronic constipation Nevus flammeus Hypoplasia of the zygomatic bone Weak voice Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Abnormality of the vasculature Pulmonary artery stenosis Fibroma Soft skin Hallux valgus Hypoplastic toenails Open bite Hoarse voice Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hemivertebrae Constrictive pericarditis Increased bone mineral density Aortic valve stenosis Ischemic stroke Gingival overgrowth Amblyopia Nephrolithiasis Recurrent urinary tract infections Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Thick lower lip vermilion Sacral dimple Infantile muscular hypotonia Loss of consciousness Portal hypertension Polyuria Glucose intolerance Tracheoesophageal fistula Periorbital fullness Abnormality of dental morphology Unilateral renal agenesis Chronic otitis media Nephritis Abnormality of the voice Hypoplastic frontal sinuses Radioulnar synostosis Schizophrenia Failure to thrive in infancy Hypercalcemia Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Gait imbalance Peptic ulcer Decreased plasma carnitine Supravalvular aortic stenosis Myxomatous mitral valve degeneration Edema Severe short stature Hepatosplenomegaly Unilateral renal hypoplasia Abnormality of the nervous system Infertility Calcification of the aorta Impaired visuospatial constructive cognition Flat cornea Abnormal carotid artery morphology Abnormal social behavior Astigmatism Renovascular hypertension Abnormality of the gastric mucosa Cirrhosis Infantile hypercalcemia Food intolerance Pelvic kidney Ascites Retinal arteriolar tortuosity Paroxysmal bursts of laughter Cardiomyopathy Renal artery stenosis Early onset of sexual maturation Abnormality of eye movement Encephalopathy Fever Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Overfriendliness Abnormality of the diencephalon Nystagmus-induced head nodding Epileptic encephalopathy Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Status epilepticus Medial flaring of the eyebrow Choreoathetosis Multifocal seizures Focal clonic seizures Coronary artery stenosis Abnormality of the bladder Peripheral pulmonary artery stenosis Scaphocephaly Pericarditis Retinal vascular tortuosity Increased nuchal translucency Insulin-resistant diabetes mellitus Urethral stenosis Parathyroid hyperplasia Phonophobia Dysgraphia Arterial stenosis Microglossia Pulmonary fibrosis Rectal prolapse Periorbital edema Myocardial fibrosis Prominent superficial veins Muscular hypotonia of the trunk Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Slender long bone High pitched voice Synostosis of joints Aortic arch aneurysm Triangular face Abdominal distention Nocturia Nevus Decreased antibody level in blood Growth hormone deficiency Epidermal acanthosis Insulin resistance Acanthosis nigricans Overriding aorta Thyroid hypoplasia Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Reduced tendon reflexes Colonic diverticula Renal duplication Cachexia Aplasia/Hypoplasia of the iris Premature ovarian insufficiency Abnormal endocardium morphology Renal hypoplasia Clinodactyly of the 5th finger Ventricular hypertrophy Clinodactyly Tapered finger Short distal phalanx of finger Thick eyebrow Facial asymmetry Poor speech Synophrys Thin upper lip vermilion Hyperactivity Upslanted palpebral fissure Recurrent infections Short phalanx of finger Abnormality of the skeletal system Brachydactyly Diffuse hepatic steatosis No social interaction Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Syncope Low anterior hairline Intellectual disability, progressive Respiratory tract infection Tall stature Hypoplasia of dental enamel Heterotopia Apraxia Sloping forehead High, narrow palate Joint hypermobility Hypermetropia Leukemia Carcinoma Abnormality of the hand Conductive hearing impairment Jaundice Mandibular prognathia Prominent forehead Aplasia of the 1st metacarpal Mild global developmental delay Abnormality of finger Ventricular extrasystoles Absent radius 2-3 toe syndactyly Abnormal electroretinogram Spastic tetraplegia Abnormal vertebral morphology Abnormality of the basal ganglia Abnormal pyramidal sign Mental deterioration High myoinositol in brain by MRS Focal seizures, afebril Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Vertical supranuclear gaze palsy Positive Romberg sign Upper motor neuron dysfunction Focal-onset seizure Spastic dysarthria Impaired vibration sensation in the lower limbs Deeply set eye Impaired horizontal smooth pursuit Delayed eruption of primary teeth Cerebral hypomyelination Progressive spasticity Horizontal nystagmus Frequent falls Falls Progressive cerebellar ataxia High myopia Bilateral sensorineural hearing impairment Polydactyly Generalized-onset seizure Brain atrophy Tetraplegia Retinal degeneration Abnormality of the cerebral white matter Severe global developmental delay Elevated hepatic transaminase EEG abnormality Respiratory failure Brachycephaly Focal impaired awareness seizure Myoclonus Abnormality of metabolism/homeostasis Blindness Intellectual disability, severe Respiratory insufficiency Low-set ears Abnormal upper motor neuron morphology Hypometric saccades Foam cells Natal tooth Lymphedema Narrow palate Hypsarrhythmia Joint stiffness Carious teeth Nausea and vomiting Pulmonic stenosis Corneal opacity Stroke Scarring Blepharophimosis Craniosynostosis Wide mouth Paralysis Joint hyperflexibility Autistic behavior Protruding ear Hyperlordosis Feeding difficulties in infancy Low-set, posteriorly rotated ears Cleft lip Hypertrophic cardiomyopathy Proteinuria Anxiety Umbilical hernia Malabsorption Smooth philtrum Kyphoscoliosis Dehydration Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Hypotelorism Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Microdontia Oral cleft Esotropia Dental malocclusion Chest pain Sudden cardiac death Full cheeks Macroglossia Broad nasal tip Postural instability Sleep disturbance Everted lower lip vermilion Arthralgia Gastroesophageal reflux Accelerated skeletal maturation Oxycephaly Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Periventricular leukomalacia Cavum septum pellucidum Cleft palate Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Acute lymphoblastic leukemia Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Large hands Abnormality of the cerebral ventricles Pain Hypothyroidism Inguinal hernia Autism Micropenis Glaucoma Abdominal pain Osteoporosis Recurrent respiratory infections Constipation Elevated serum creatine phosphokinase Delayed skeletal maturation Obesity Cataract Hernia Midface retrusion Malar flattening Renal insufficiency Myopathy Respiratory distress Hypertension Visual impairment Flexion contracture Ptosis Pericardial constriction


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