Seizures, and Hypodontia

Diseases related with Seizures and Hypodontia

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


Top matches:

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Low match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


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

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Other less relevant matches:

Low match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-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

Low match UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


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

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Low match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


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

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Top 5 symptoms//phenotypes associated to Seizures and Hypodontia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Hypodontia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Protruding ear Myopia Dystonia Short stature Generalized hypotonia Oligodontia Ectodermal dysplasia Highly arched eyebrow Sparse hair Neurological speech impairment Microdontia Microcephaly Cleft palate Leukodystrophy Carious teeth Wide nasal bridge Ataxia Nystagmus Sparse lateral eyebrow Severe short stature Nail dystrophy Hearing impairment Sensorineural hearing impairment Hypogonadism Babinski sign Pili torti Hypoplasia of the corpus callosum Optic atrophy Hyperreflexia EEG abnormality Dysphagia

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Malar flattening Downslanted palpebral fissures Syndactyly Peripheral demyelination Micrognathia Postural tremor Hypertonia CNS hypomyelination Drooling Midface retrusion Alopecia Natal tooth Synophrys Hyperhidrosis Abnormality of the ear Strabismus Anhidrosis Hypotrichosis Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Dystrophic fingernails Dystrophic toenail Anodontia Bilateral cleft lip and palate Abnormality of the ureter Cutaneous finger syndactyly Abnormality of dental morphology Macrotia Palmoplantar hyperkeratosis Scrotal hypoplasia Sparse eyelashes Abnormality of dental enamel Bilateral single transverse palmar creases Sparse and thin eyebrow Hypohidrosis Wide intermamillary distance Oral cleft Cleft upper lip Finger syndactyly Hyperlordosis Cleft lip Hypogonadotrophic hypogonadism Toe syndactyly Peripheral neuropathy Intention tremor Abnormality of the fingernails Hypertelorism Cerebral cortical atrophy Polydactyly Brachydactyly Epicanthus Dysmetria Developmental regression Delayed puberty Delayed eruption of teeth Ainhum Abnormal cornea morphology Plantar hyperkeratosis Abnormal oral mucosa morphology Abnormality of the gingiva Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Autoamputation Foot pain Hepatomegaly Agenesis of premolar Gait disturbance Circumungual hyperkeratosis Skin fissure Alopecia universalis Anal fissure Failure to thrive Frontal bossing Muscular hypotonia Low-set ears Depressed nasal bridge Clumsiness Generalized osteoporosis Abnormality of the tongue Cutis laxa Papule Pruritus Ichthyosis Palmoplantar keratoderma Epidermal acanthosis Inflammatory abnormality of the skin Thickened skin Skin ulcer Opacification of the corneal stroma Osteolysis Neoplasm of the skin Melanoma Trichorrhexis nodosa Mutism Squamous cell carcinoma Curly hair Parakeratosis Neoplasm of the lung Ankylosis Oral leukoplakia Hypergranulosis Intellectual disability, severe Subungual hyperkeratosis Amniotic constriction ring Respiratory insufficiency Brachycephaly Blindness Decreased body weight High palate Atrial septal defect Behavioral abnormality Feeding difficulties in infancy Pulmonic stenosis Hirsutism Broad nasal tip Dental malocclusion Otitis media Coarctation of aorta Recurrent otitis media Long eyelashes Diffuse hepatic steatosis Cupped ear Atrioventricular canal defect Long palpebral fissure Central hypotonia Neonatal hypoglycemia Short columella Depressed nasal tip Short 5th finger Generalized joint laxity Long hallux Prominent fingertip pads Abnormality of the breast Scoliosis No social interaction Abnormality of metabolism/homeostasis Tetraplegia Myoclonus Erythema Respiratory failure Osteopenia Elevated hepatic transaminase Neonatal hypotonia Irritability Retinopathy Severe global developmental delay Abnormality of the cerebral white matter Retinal degeneration Brain atrophy Abnormality of nervous system morphology Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Spastic tetraplegia Intellectual disability, progressive Abnormal electroretinogram Hand polydactyly Inverted nipples Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Tapetoretinal degeneration Corneal opacity Pain Joint laxity Muscular hypotonia of the trunk Dysdiadochokinesis Focal impaired awareness seizure Motor deterioration Foam cells Hypometric saccades Abnormal upper motor neuron morphology Fever Thin eyebrow Absent speech Encephalopathy Generalized tonic-clonic seizures High myopia Abnormality of eye movement Epileptic encephalopathy Cyanosis Status epilepticus Choreoathetosis Involuntary movements Multifocal seizures Focal clonic seizures Delayed ability to walk Myopathic facies Eosinophilia Reduced number of teeth Intellectual disability, mild Short palpebral fissure Deeply set eye Impaired vibration sensation in the lower limbs Spastic dysarthria Upper motor neuron dysfunction Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception Focal seizures, afebril High myoinositol in brain by MRS Cognitive impairment Focal-onset seizure Motor delay Dysarthria Tremor Ventriculomegaly Cerebellar atrophy Cerebellar hypoplasia Gait ataxia Mental deterioration Abnormal pyramidal sign Abnormal cerebellum morphology Progressive cerebellar ataxia Narrow palpebral fissure Hypsarrhythmia Carcinoma Small hand Postaxial foot polydactyly Aplasia/Hypoplasia of the eyebrow Facial cleft Mild short stature Hypoplastic toenails Bilateral cleft lip Hypoplasia of the zygomatic bone Small nail Hypotelorism Postaxial hand polydactyly Limb undergrowth Postaxial polydactyly Abnormality of the antihelix Short palm Anal atresia Pterygium Scaling skin Clinodactyly of the 5th finger Anteverted ears Growth delay Flexion contracture Delayed skeletal maturation Osteoporosis Hyperkeratosis Brittle hair Abnormal toenail morphology Prominent nose Long philtrum Asthma Unsteady gait Hypermetropia Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Abnormality of the kidney Narrow mouth Hyperactivity Recurrent infections Immunodeficiency Delayed speech and language development Abnormal dermatoglyphics Feeding difficulties Prominent antihelix Triangular face Abnormal oral frenulum morphology Single median maxillary incisor Sparse scalp hair Toenail dysplasia Advanced eruption of teeth Conical tooth Overlapping fingers Thoracic dysplasia Eversion of lateral third of lower eyelids



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Hip dislocation, related diseases and genetic alterations Macrocephaly and Facial asymmetry, related diseases and genetic alterations Myopathy and Underdeveloped nasal alae, related diseases and genetic alterations Hypertelorism and Abnormality of the kidney, related diseases and genetic alterations Growth delay and Respiratory tract infection, related diseases and genetic alterations Short stature and Hypogonadism, related diseases and genetic alterations

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