Hyperreflexia, and Delayed eruption of teeth

Diseases related with Hyperreflexia and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Delayed eruption of teeth 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

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

Other less relevant matches:

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL 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

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Top 5 symptoms//phenotypes associated to Hyperreflexia and Delayed eruption of teeth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Hearing impairment Ventriculomegaly Abnormality of the dentition Hypoplasia of dental enamel Oligodontia Hypodontia Cognitive impairment Generalized hypotonia Babinski sign Ataxia Spasticity Cryptorchidism Strabismus Macrocephaly Neoplasm Genu valgum Delayed puberty Frontal bossing High palate Myopia Dolichocephaly Mandibular prognathia Prominent forehead Dysmetria Coarse facial features Behavioral abnormality Sensorineural hearing impairment Cerebral cortical atrophy Cerebellar hypoplasia Reduced number of teeth CNS hypomyelination Micrognathia Intention tremor Depressivity Leukodystrophy Hypogonadotrophic hypogonadism Cerebellar atrophy Optic atrophy Hyporeflexia Hypoplasia of the corpus callosum Brachydactyly Dysphagia Hypertelorism

Rare Symptoms - Less than 30% cases

Accelerated skeletal maturation Conductive hearing impairment Arthritis EEG abnormality Neonatal hypotonia Tall stature Vesicoureteral reflux Renal insufficiency Precocious puberty Thin upper lip vermilion Carious teeth Anxiety Abnormal facial shape Short metacarpal Multiple renal cysts High, narrow palate Prolonged QT interval Neoplasm of the skin Joint laxity Narrow palate Skin ulcer Dental crowding Carcinoma Aggressive behavior Fine hair Full cheeks Joint hypermobility Downslanted palpebral fissures Anteverted nares Obesity Patent ductus arteriosus Irritability Feeding difficulties in infancy Macrotia Blindness Long philtrum Visual impairment Dystonia Reduced tendon reflexes Conjunctivitis Apraxia Postural tremor Drooling Clumsiness Deeply set eye Peripheral neuropathy Clinodactyly Motor deterioration Dysdiadochokinesis Abnormal cerebellum morphology Gait ataxia Hypogonadism Intellectual disability, mild Dysarthria Motor delay Hyperparathyroidism Cataract Advanced eruption of teeth Delayed speech and language development Sacrococcygeal teratoma Hypoplastic fingernail Retrognathia Scarring Clinodactyly of the 5th finger Elevated serum creatine phosphokinase Severe global developmental delay Arrhythmia Broad forehead Syndactyly Malar flattening Low-set ears Cleft palate Keratoconjunctivitis sicca Nail dystrophy Alopecia of scalp Macule Dilated cardiomyopathy Sparse hair Hypoplasia of the maxilla Febrile seizures Cellulitis Syncope Sudden cardiac death Broad nasal tip Triangular face Small hand Trichiasis Wide nose Specific learning disability Short palm Bulbous nose Thin vermilion border Limb muscle weakness Toe syndactyly Abnormality of corneal stroma Ichthyosis Moderate hearing impairment Hemiplegia/hemiparesis Dystrophic fingernails Sparse and thin eyebrow Dystrophic toenail Oral leukoplakia Elbow flexion contracture Knee flexion contracture Sparse eyelashes Thickened skin Osteolysis Hypoplastic toenails Absent eyebrow Urticaria Scaling skin Congenital sensorineural hearing impairment Keratitis Hypohidrosis Aganglionic megacolon Furrowed tongue Keratoconjunctivitis Palmoplantar keratoderma Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Nail dysplasia Squamous cell carcinoma of the skin Squamous cell carcinoma Abnormality of the tongue Severe hearing impairment Aplasia/Hypoplasia of the eyebrow Corneal neovascularization Progressive visual loss Abnormal eyelash morphology Corneal erosion Recurrent corneal erosions Ventricular septal defect Palpitations Periventricular leukomalacia Depressed nasal bridge Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Oxycephaly Dyspnea Cavum septum pellucidum Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Short neck Paresthesia Nephroblastoma Laryngeal dystonia Increased bone density with cystic changes Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Diaphyseal sclerosis Hypocalcemic tetany Myoclonic spasms Hypocalcemic seizures Ectopic calcification Pseudohypoparathyroidism Tetany Dyskinesia Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Hyperphosphatemia Reduced bone mineral density Hypocalcemia Increased bone mineral density Growth hormone deficiency Round face Chest pain Muscle cramps Large hands Redundant skin Short phalanx of finger Ventricular extrasystoles Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Short finger Periodic hypokalemic paresis Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Abnormal palate morphology Ventricular tachycardia Scapular winging Bilateral single transverse palmar creases Cardiac arrest Short mandibular rami Effort-induced polymorphic ventricular tachycardias Cutis laxa Otitis media Abnormal dermatoglyphics Pointed chin Narrow face Abnormal vertebral morphology Lymphedema Heterotopia Small nail Sloping forehead Overgrowth Renal agenesis Hypermetropia Muscle fiber tubular inclusions Leukemia Respiratory tract infection Abnormality of the kidney Jaundice Pes planus Abnormal heart morphology Atrial septal defect Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Erythema Hypoglycemia Photophobia Platyspondyly Recurrent fractures Metabolic acidosis Everted lower lip vermilion Hematuria Long face Joint hyperflexibility Malabsorption Congenital cataract Hip dislocation Increased serum lactate Corneal opacity Attention deficit hyperactivity disorder Camptodactyly of finger Joint stiffness Protruding ear Low-set, posteriorly rotated ears Intellectual disability, moderate Proteinuria Umbilical hernia Abnormal bleeding Aciduria Acidosis Clonus Hypokalemia Hypercalciuria Deep philtrum Hypercholesterolemia Azoospermia Abnormality of dental enamel Aminoaciduria Nephrocalcinosis Joint contracture of the hand Abnormality of epiphysis morphology Dehydration Stereotypy Amblyopia Nephrolithiasis Subcutaneous nodule Abnormality of the metaphysis Open mouth Osteoarthritis Sparse scalp hair Abnormality of the ribs Gastroesophageal reflux Reduced visual acuity Rickets Upper motor neuron dysfunction Tremor 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 Abnormality of the basal ganglia Spastic dysarthria Abnormal pyramidal sign Impaired vibration sensation in the lower limbs Developmental regression Impaired horizontal smooth pursuit Delayed eruption of primary teeth Cerebral hypomyelination Progressive spasticity Horizontal nystagmus Frequent falls Falls Mental deterioration Progressive cerebellar ataxia Glaucoma Feeding difficulties Upslanted palpebral fissure Recurrent respiratory infections Constipation Inguinal hernia Areflexia Thrombocytopenia Microphthalmia Kyphosis Respiratory insufficiency Anemia Focal-onset seizure Failure to thrive Growth delay Abnormal upper motor neuron morphology Hypometric saccades Foam cells Natal tooth Focal impaired awareness seizure High myopia Peripheral demyelination Abnormality of the voice Glomerulonephritis Hyperkeratosis Abnormality of the fingernails Talipes equinovarus Epicanthus Neoplasm of the nervous system Renal duplication Abnormality of the ureter Abnormality of immune system physiology Genu varum Aplasia/Hypoplasia of the corpus callosum Congenital hip dislocation Absent speech Depressed nasal ridge Abnormal cardiac septum morphology Craniosynostosis High forehead Hypospadias Muscular hypotonia Dense posterior cortical cataract Hypoammonemia Wrist swelling Cerebral atrophy Kyphoscoliosis Abnormality of dentin Relative macrocephaly Hyperhidrosis Pes cavus Alopecia Delayed skeletal maturation Visual loss Pain Wide nasal base Broad philtrum Broad face Hypertrichosis Hepatosplenomegaly Short palpebral fissure Neuronal loss in central nervous system Macroglossia Thick vermilion border Inability to walk Talipes Abnormality of the cerebral white matter Autistic behavior Camptodactyly Lentiglobus Bicarbonaturia Self-injurious behavior Abnormal joint morphology Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Pathologic fracture Renal tubular dysfunction Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Taurodontia Generalized hypopigmentation Elevated maternal serum alpha-fetoprotein Vitamin D deficiency Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Proximal renal tubular acidosis Atelectasis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Cortical subperiosteal resorption of humeral metaphyses


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