Depressed nasal bridge, and Generalized tonic-clonic seizures

Diseases related with Depressed nasal bridge and Generalized tonic-clonic seizures

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Generalized tonic-clonic seizures that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

High match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

High match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

High match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

High match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

High match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Generalized tonic-clonic seizures

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Intellectual disability, severe Anteverted nares Absent speech Hypertelorism Micrognathia Epicanthus Downslanted palpebral fissures Hypoplasia of the corpus callosum Inability to walk Generalized myoclonic seizures Malar flattening Autistic behavior Feeding difficulties Brachycephaly High forehead Macrocephaly Long philtrum Short neck Open mouth Cleft palate Hearing impairment Epileptic encephalopathy Strabismus Short nose Leukemia Growth delay Short stature Ptosis Upslanted palpebral fissure Ventriculomegaly Cerebellar hypoplasia Downturned corners of mouth Focal-onset seizure Macrotia Cerebral atrophy Deeply set eye Encephalopathy Tented upper lip vermilion

Rare Symptoms - Less than 30% cases


Talipes equinovarus Wide nose Wide nasal bridge Muscular hypotonia Cryptorchidism Scoliosis Cataract Broad thumb Midface retrusion Hypospadias Agenesis of corpus callosum Attention deficit hyperactivity disorder Everted lower lip vermilion Failure to thrive Adducted thumb Skeletal dysplasia Fibular aplasia Acute lymphoblastic leukemia Aplasia/Hypoplasia of the ulna Delayed speech and language development Neonatal hypotonia Motor delay Brachydactyly Absence seizures Aggressive behavior Thrombocytopenia Autism Edema Ventricular septal defect Frontal bossing Poor eye contact Protruding ear Febrile seizures Hyperactivity Pneumonia Gingival overgrowth EEG abnormality Gastroesophageal reflux Abnormality of the periventricular white matter Abnormality of the skeletal system Myoclonus Posteriorly rotated ears Recurrent respiratory infections Severe global developmental delay Abnormality of the dentition Atonic seizures Spasticity Delayed myelination High palate Intellectual disability, progressive Thin upper lip vermilion Hydrocephalus Fused cervical vertebrae Flat occiput Clubbing Spondyloepiphyseal dysplasia Oral-pharyngeal dysphagia Elbow dislocation Tibial bowing Short metatarsal Hyperreflexia Narrow chest Gait disturbance Constipation Progressive spasticity Disproportionate short-limb short stature Depressivity Recurrent infections Short humerus Loss of speech Vomiting Respiratory distress Bell-shaped thorax Radial bowing Hyperkinesis Severe short stature Drooling Short metacarpal Flexion contracture Poor speech Talipes Nausea Hyperlordosis Anxiety Pain Abdominal distention Premature birth Polyhydramnios Mandibular prognathia Proptosis Hypodysplasia of the corpus callosum Weight loss Otitis media Abnormality of the outer ear Respiratory failure Limb undergrowth Lumbar hyperlordosis Encephalocele Recurrent urinary tract infections Abdominal pain Rhizomelia Sinusitis Aspiration Meningitis Muscle stiffness Recurrent pneumonia Respiratory tract infection Joint dislocation Short femur Tetralogy of Fallot 11 pairs of ribs Aplastic anemia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Seborrheic dermatitis Patellar aplasia Allergy Delayed CNS myelination Duodenal atresia Phocomelia Chromosome breakage Cardiorespiratory arrest Patellar dislocation Carpal synostosis Nevus flammeus Megalocornea Absent radius Carpal bone hypoplasia Lateral clavicle hook Intracranial hemorrhage Nevus flammeus of the forehead Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Aplasia/hypoplasia of the humerus Generalized tonic-clonic seizures with focal onset Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Cervical ribs Focal impaired awareness seizure Hypoplasia of the radius Lethal skeletal dysplasia Distal tapering femur Hepatosplenomegaly Glaucoma Clinodactyly of the 5th finger Abnormal heart morphology Atrial septal defect Anemia Sensorineural hearing impairment Multinucleated giant chondrocytes in epiphyseal cartilage Abnormality of the kidney Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Long clavicles Intestinal pseudo-obstruction Coronal cleft vertebrae Cleft lip Abnormal cardiac septum morphology Genu varum Cerebellar vermis hypoplasia Eosinophilia Hemangioma Coxa valga Horseshoe kidney Spina bifida Short phalanx of finger Left ventricular hypertrophy Blue sclerae Finger syndactyly Ventricular hypertrophy Coarctation of aorta Premature chromatid separation Decreased antibody level in blood Intestinal malrotation Sepsis Hip dislocation Embryonal rhabdomyosarcoma Periventricular leukomalacia Cerebral hypoplasia Prominent nose Broad hallux Myopathic facies Low anterior hairline Short thumb Small nail Wide intermamillary distance Full cheeks Global brain atrophy Tapered finger Thick vermilion border Short distal phalanx of finger Wide mouth Ganglioneuroblastoma Pontocerebellar atrophy Anonychia Short columella Impulsivity Pseudoepiphysis of the thumb Polydactyly Prominent forehead Pes cavus Kyphosis Hypoplastic thumbnail Absent nail of hallux Tented philtrum Low hanging columella Flat forehead Pseudoepiphyses Frontal upsweep of hair Small thenar eminence Thick nasal alae High anterior hairline Inverted nipples Laryngomalacia Neutropenia Status epilepticus Falls Mental deterioration Behavioral abnormality Dysphagia Limb hypertonia Hemiparesis Chorea Enlarged cisterna magna Smooth philtrum Developmental regression Cerebral cortical atrophy Dystonia Hypertonia Cognitive impairment Relative macrocephaly Generalized tonic seizures Hyperbilirubinemia Hypoglycemia Paraparesis Bradycardia Postnatal microcephaly Clumsiness Apraxia Apnea Hypothyroidism Abnormality of brainstem morphology Ataxia EEG with focal sharp slow waves CNS infection Frontotemporal cerebral atrophy Atypical absence seizures Personality disorder Umbilical hernia Eczema Triangular mouth Micropenis Dandy-Walker malformation Renal cyst Muscular dystrophy Small for gestational age Postnatal growth retardation Feeding difficulties in infancy Clinodactyly Oligohydramnios Immunodeficiency Intrauterine growth retardation Neoplasm Nystagmus Periventricular white matter hyperdensities Frontal cortical atrophy Amenorrhea Ambiguous genitalia Happy demeanor Combined immunodeficiency Rhabdomyosarcoma Short sternum Mild microcephaly Acute leukemia Multiple renal cysts Severe intrauterine growth retardation Bifid scrotum Intellectual disability, profound Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Hemiclonic seizures Abnormality of nervous system morphology Recurrent otitis media Ectopic calcification Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Short 5th metacarpal Coloboma Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Dilatation Short philtrum Abnormal corpus callosum morphology Short chin Agenesis of cerebellar vermis Large earlobe Infantile spasms Cupped ear Optic nerve hypoplasia Plagiocephaly Stereotypy Broad forehead Heterotopia Broad-based gait Convex nasal ridge Short foot Iris coloboma Thick eyebrow Toe syndactyly Cow milk allergy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Long face, related diseases and genetic alterations Microphthalmia and Coma, related diseases and genetic alterations Feeding difficulties and Microcornea, related diseases and genetic alterations

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