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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Low match WEYERS ACROFACIAL DYSOSTOSIS; WAD

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.

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

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: GARD MONDO MESH ORPHANET UMLS OMIM SCTID

More info about WEYERS ACROFACIAL DYSOSTOSIS; WAD

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

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

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Other less relevant matches:

Low match LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7

Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by Bernard et al., 2011).See also HLD8 (OMIM ), which has similar features and is caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23. 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}.

LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 Is also known as leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition, ataxia, delayed dentition, and hypomyelination;addh, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, 4h syndrome;ataxia-delayed dentition-hypomyelination syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID OMIM ORPHANET MONDO

More info about LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7

Low match CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

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.

CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 Is also known as zlotogora-ogur syndrome, ectodermal dysplasia, margarita island type, ectodermal dysplasia, type 4;ed4, ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly;clped1; cleft lip/palate-ectodermal dysplasia syndrome; cleft lip/palate-syndactyly-pili torti syndrome; syndactyly-ectodermal dysplasia-cleft/lip palate; zlotogora-zilberman-tenenbaum syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate


SOURCES: MONDO GARD ORPHANET OMIM NCIT

More info about CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

Low match KABUKI SYNDROME 2; KABUK2

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: MONDO OMIM UMLS

More info about KABUKI SYNDROME 2; KABUK2

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (OMIM ), caused by mutation in the HSD17B4 gene (OMIM ) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) (Watkins et al., 1995).

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

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS DOID SCTID MESH MONDO OMIM GARD ORPHANET

More info about PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Low match SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot MalformationAdditional SHFM loci include SHFM2 (OMIM ) on chromosome Xq26; SHFM3 (OMIM ), caused by duplication of chromosome 10q24; SHFM4 (OMIM ), caused by mutation in the TP63 gene (OMIM ) on chromosome 3q27; SHFM5 (OMIM ) on chromosome 2q31; and SHFM6 (OMIM ), caused by mutation in the WNT10B gene (OMIM ) on chromosome 12q13.Also see SHFM1D (OMIM ) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (OMIM ).

SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 Is also known as split-hand/foot malformation 1 with or without deafness, split-hand/foot deformity 1;shfd1;shsf1, split-hand deformity, ectrodactyly;ecd;ectrodactyly; lobster-claw deformity; shfm; split hand foot malformation

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: UMLS NCIT DOID MONDO OMIM ORPHANET

More info about SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

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).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: DOID MONDO UMLS OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

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
Motor delay Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance 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


Abnormality of the dentition Hyperreflexia Dysphagia Brachydactyly Dystonia Pica Spasticity Sensorineural hearing impairment Microcephaly Hearing impairment Nail dysplasia Nail dystrophy Protruding ear Leukodystrophy Micrognathia Strabismus Short stature Cleft palate Nystagmus Generalized hypotonia Myopia Optic atrophy Hypoplasia of the corpus callosum Highly arched eyebrow Ataxia Babinski sign

Rare Symptoms - Less than 30% cases


High palate Delayed eruption of teeth Intention tremor Drooling Postural tremor Hypertelorism Depressed nasal bridge Oligodontia CNS hypomyelination Hypogonadotrophic hypogonadism Failure to thrive Hypogonadism Epicanthus Ectodermal dysplasia Synophrys Neurological speech impairment Sparse hair Finger syndactyly EEG abnormality Hyperhidrosis Macrotia Alopecia Syndactyly Wide nasal bridge Pili torti Downslanted palpebral fissures Natal tooth Peripheral demyelination Ranula Feeding difficulties Delayed puberty Gait ataxia Clinodactyly Intellectual disability, severe Sparse lateral eyebrow Dysmetria Atrial septal defect Cleft lip Abnormality of the fingernails Hypertonia Encephalopathy Polydactyly Flexion contracture Developmental regression Amniotic constriction ring Carious teeth Cerebral cortical atrophy Behavioral abnormality Peripheral neuropathy Foot pain Anhidrosis Osteopenia Neonatal hypotonia Retinopathy Skin fissure Irritability Severe global developmental delay Retinal degeneration Abnormality of the cerebral white matter Plantar hyperkeratosis Neoplasm of the lung Papilloma Curly hair Parakeratosis Death in infancy Squamous cell carcinoma Tetraplegia Melanoma Mutism Neoplasm of the skin Cutis laxa Thickened skin Inflammatory abnormality of the skin Brain atrophy Osteolysis Elevated hepatic transaminase Respiratory failure Autoamputation Abnormality of the tongue Ainhum Abnormality of the gingiva Palmoplantar hyperhidrosis Subungual hyperkeratosis Muscular hypotonia Low-set ears Abnormal cornea morphology Abnormal oral mucosa morphology Hepatomegaly Trichorrhexis nodosa Frontal bossing Alopecia universalis Agenesis of premolar Myoclonus Infantile onset Hidrotic ectodermal dysplasia Gait disturbance Circumungual hyperkeratosis Hypergranulosis Respiratory insufficiency Generalized osteoporosis Oral leukoplakia Blindness Anal fissure Abnormality of metabolism/homeostasis Brachycephaly Ankylosis No social interaction Spontaneous abortion Upslanted palpebral fissure Attention deficit hyperactivity disorder Aggressive behavior Thin upper lip vermilion Pes planus Hyperactivity High forehead Recurrent infections Abnormal cardiac septum morphology Pectus excavatum Kyphosis Long philtrum Short nose Abnormality of the skeletal system Delayed speech and language development Bilateral triphalangeal thumbs Broad forehead Facial asymmetry Attached earlobe Abnormality of the hand Slanting of the palpebral fissure Hyperacusis Ventricular extrasystoles Mild global developmental delay Absent radius Obsessive-compulsive behavior 2-3 toe syndactyly Low anterior hairline Thick eyebrow Syncope Dental crowding Short phalanx of finger Thick vermilion border Poor speech Tapered finger Short distal phalanx of finger Morphological abnormality of the middle ear Absent hand Bilateral sensorineural hearing impairment Functional respiratory abnormality Skin ulcer Diffuse hepatic steatosis Abnormality of nervous system morphology CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Tapetoretinal degeneration Inverted nipples Cryptorchidism Abnormality of visual evoked potentials Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Generalized seizures Spastic tetraplegia Pigmentary retinopathy Scoliosis Abnormality of cardiovascular system morphology Foot oligodactyly Broad hallux Red hair Hand oligodactyly Oligodactyly Split foot Ectrodactyly Aniridia Rocker bottom foot Overfolded helix Retrognathia Triphalangeal thumb Overgrowth Gingival overgrowth Split hand Esotropia Abnormality of the pinna Abnormality of the genital system Opacification of the corneal stroma Hirsutism Fine hair Vertical supranuclear gaze palsy High myoinositol in brain by MRS Focal seizures, afebril Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Positive Romberg sign Abnormality of the basal ganglia Dysarthria Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Clumsiness Deeply set eye Cerebellar hypoplasia Cognitive impairment Ventriculomegaly Hypothalamic hamartoma High myopia Foam cells Motor deterioration Focal seizures with impairment of consciousness or awareness Dysdiadochokinesis Reduced number of teeth Leukoencephalopathy Progressive cerebellar ataxia Tremor Focal seizures Abnormal cerebellum morphology Mental deterioration Abnormal pyramidal sign Progressive Cerebellar atrophy Intellectual disability, mild Prominent antihelix Abnormal upper motor neuron morphology Status epilepticus Anal atresia Clinodactyly of the 5th finger Focal clonic seizures Multifocal seizures Involuntary movements Cyanosis Choreoathetosis Small hand Epileptic encephalopathy Athetosis Abnormality of eye movement Muscular hypotonia of the trunk Absent speech Fever Short palm Postaxial polydactyly Abnormal oral frenulum morphology Abnormality of the antihelix Single median maxillary incisor Advanced eruption of teeth Toenail dysplasia Conical tooth Overlapping fingers Abnormal toenail morphology Postaxial foot polydactyly Hypotelorism Mild short stature Facial cleft Hamartoma Hypoplastic toenails Small nail Limb undergrowth Postaxial hand polydactyly Hypometric saccades Malar flattening Hypotrichosis Central hypotonia Prominent fingertip pads Long hallux Generalized joint laxity Depressed nasal tip Short columella Neonatal hypoglycemia Atrioventricular canal defect Eversion of lateral third of lower eyelids Long palpebral fissure Cupped ear Decreased body weight Long eyelashes Coarctation of aorta X-linked dominant inheritance Abnormality of the breast Growth delay Broad nasal tip Carcinoma Epidermal acanthosis Palmoplantar keratoderma Papule Ichthyosis Pruritus Corneal opacity Joint laxity Neoplasm Hyperkeratosis Severe short stature Erythema Osteoporosis Delayed skeletal maturation Pain Dental malocclusion Pulmonic stenosis Midface retrusion Microdontia Sparse eyelashes Abnormality of dental enamel Bilateral single transverse palmar creases Hypohidrosis Sparse and thin eyebrow Sparse scalp hair Wide intermamillary distance Palmoplantar hyperkeratosis Triangular face Abnormality of the kidney Cleft upper lip Toe syndactyly Hyperlordosis Recurrent respiratory infections Abnormal dermatoglyphics Scrotal hypoplasia Feeding difficulties in infancy Anodontia Tics Progressive hypotrichosis Cutaneous syndactyly of toes Abnormality of the philtrum Abnormality of hair texture Dystrophic fingernails Bilateral cleft lip Abnormality of dental morphology Dystrophic toenail Bilateral cleft lip and palate Hypoplasia of the zygomatic bone Abnormality of the ureter Cutaneous finger syndactyly Abnormality of the ear Aplasia/Hypoplasia of the eyebrow Aplasia of the 1st metacarpal



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Rod-cone dystrophy and Osteopenia, related diseases and genetic alterations Fever and Abnormality of the skeletal system, related diseases and genetic alterations Hyperreflexia and Hyperinsulinemia, related diseases and genetic alterations Skeletal muscle atrophy and Ventricular septal defect, related diseases and genetic alterations Nystagmus and Encephalocele, related diseases and genetic alterations Short stature and Cleft palate, related diseases and genetic alterations