Frontal bossing, and Generalized tonic-clonic seizures

Diseases related with Frontal bossing and Generalized tonic-clonic seizures

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


Top matches:

High match 1Q44 MICRODELETION SYNDROME


1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION 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 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

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Other less relevant matches:

Medium match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2


Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Medium match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium 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

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A


Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Top 5 symptoms//phenotypes associated to Frontal bossing and Generalized tonic-clonic seizures

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

Patients with Frontal bossing and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Feeding difficulties Spasticity Micrognathia Microcephaly Brachycephaly Hypertelorism Depressed nasal bridge Scoliosis Nystagmus Prominent forehead Skeletal dysplasia Macrocephaly Muscular hypotonia Poor speech Deeply set eye Mandibular prognathia Gastroesophageal reflux Hypoplasia of the corpus callosum Hyperreflexia Short nose Low-set ears Inability to walk Encephalopathy Cerebral atrophy Absence seizures Generalized myoclonic seizures Respiratory failure Dystonia Abnormal facial shape Constipation Severe muscular hypotonia High forehead Muscular hypotonia of the trunk Severe global developmental delay Brain atrophy Delayed speech and language development Epicanthus Hearing impairment Optic atrophy Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Absent speech Ataxia Peripheral neuropathy Myopia Cerebellar atrophy Hyperlordosis Abnormality of the cerebral white matter Abnormality of metabolism/homeostasis Developmental regression Lumbar hyperlordosis Tetraplegia Spastic tetraplegia Severe short stature Abnormality of visual evoked potentials Otitis media Tibial bowing Rhizomelia Respiratory insufficiency Generalized tonic seizures Aciduria Esotropia Irritability Cerebral cortical atrophy Choreoathetosis Blindness Cardiomyopathy Anteverted nares Generalized-onset seizure Wide nasal bridge Visual impairment Focal-onset seizure Long face Neurological speech impairment Broad forehead Hyperactivity Osteopenia Midface retrusion Myoclonus Malar flattening Abnormality of the skeletal system Growth delay Ventriculomegaly Hydrocephalus Polydactyly Flexion contracture Kyphosis Gait disturbance Smooth philtrum Upslanted palpebral fissure Short neck Vomiting Respiratory distress Fibular bowing Acanthosis nigricans Sleep apnea Redundant skin Thoracic hypoplasia Mesomelia Femoral bowing Abnormality of the clavicle Megalencephaly Central apnea Cloverleaf skull Metaphyseal chondrodysplasia Enlarged cerebellum Aplasia/Hypoplasia of the mandible Hypertrophic cardiomyopathy Abnormality of the foot Thin vermilion border Cataract Delayed puberty Congenital cataract Synophrys Abnormal cardiac septum morphology Pectus carinatum Telecanthus Delayed skeletal maturation Gait ataxia Wide anterior fontanel Vesicoureteral reflux Exotropia Biparietal narrowing Plagiocephaly Preauricular skin tag Open mouth Intellectual disability, profound Horseshoe kidney Prominent nose Triangular face Tented upper lip vermilion Sleep disturbance Tapered finger Small hand Dyskinesia Bulbous nose Prominent metopic ridge Infantile muscular hypotonia Cachexia Pulmonary arterial hypertension Congestive heart failure Epidermal acanthosis High myopia Distal amyotrophy Micromelia Platyspondyly Craniosynostosis Intestinal malrotation Failure to thrive in infancy Profound static encephalopathy Appendicular hypotonia Profound global developmental delay Facial hypotonia Hip contracture Global brain atrophy Peripheral axonal neuropathy Hepatomegaly Increased serum lactate Keratitis Paralysis Abnormal pyramidal sign Unsteady gait Neurodegeneration Generalized muscle weakness Parkinsonism Gliosis Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Tetraparesis Progressive neurologic deterioration Sensorimotor neuropathy Decreased nerve conduction velocity Poor suck Epiphora Hypothyroidism Diabetes insipidus Keratoconjunctivitis sicca Gangrene Lewy bodies Corpus callosum atrophy Morphological abnormality of the pyramidal tract Urinary retention Degeneration of the lateral corticospinal tracts EMG: chronic denervation signs Spinal deformities Cerebellar cortical atrophy Autoamputation Autoamputation of digits Hypothalamic hypothyroidism Mental deterioration Dementia Hip dysplasia Peripheral demyelination Optic nerve hypoplasia Abnormality of mitochondrial metabolism Sensorineural hearing impairment Short philtrum Dysphagia Hypertonia Babinski sign EEG abnormality Elevated hepatic transaminase Neonatal hypotonia Agenesis of corpus callosum Retinopathy Retinal degeneration Hypodontia Pigmentary retinopathy Areflexia CNS demyelination Visual loss Fever Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration Decreased light- and dark-adapted electroretinogram amplitude Bilateral sensorineural hearing impairment Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Leukodystrophy High palate Prominent nasal bridge Posteriorly rotated ears Optic disc hypoplasia Progressive spasticity Recurrent pneumonia Giant platelets Joint dislocation Abnormality of the outer ear Drooling Disproportionate short-limb short stature Hyperkinesis Short metatarsal Elbow dislocation Oral-pharyngeal dysphagia Clubbing Flat occiput Spondyloepiphyseal dysplasia Lower limb hypertonia Atonic seizures Meningitis Short humerus Loss of speech Bell-shaped thorax Radial bowing Short femur 11 pairs of ribs Fused cervical vertebrae Lethal skeletal dysplasia Coronal cleft vertebrae Intestinal pseudo-obstruction Fibular aplasia Long clavicles Aplasia/Hypoplasia of the ulna Laryngeal stenosis Muscle stiffness Aspiration Thoracic platyspondyly Respiratory tract infection Hypospadias Depressivity Pneumonia Recurrent respiratory infections Talipes equinovarus Abdominal pain Weight loss Autism Proptosis Polyhydramnios Macrotia Brachydactyly Anxiety Cryptorchidism Autistic behavior Sinusitis Short metacarpal Median cleft palate Recurrent urinary tract infections Encephalocele Folate deficiency Limb undergrowth Hyposegmentation of neutrophil nuclei Premature birth Narrow chest Short 3rd metacarpal Abdominal distention Cleft palate Nausea Talipes Pain Multiple joint dislocation Club-shaped proximal femur Joint laxity Narrow naris Cerebral visual impairment Pes cavus Aortic regurgitation Shock Focal impaired awareness seizure Stridor Turricephaly Increased CSF protein Dilation of lateral ventricles Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Thrombocytopenia Inspiratory stridor Anteverted ears Hypsarrhythmia Downslanted palpebral fissures Thin upper lip vermilion Exaggerated cupid's bow Recurrent infections Ventricular septal defect Edema Abnormality of the dentition Intrauterine growth retardation Infantile encephalopathy Ptosis Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Subependymal cysts Cardiogenic shock Glutaric aciduria Involuntary movements Epileptic encephalopathy Multinucleated giant chondrocytes in epiphyseal cartilage Lower limb hyperreflexia Distal tapering femur Cognitive impairment Tremor Ectopic calcification Microtia Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Delayed myelination Upper limb undergrowth Delayed gross motor development Postnatal macrocephaly Muscle weakness Acute lymphoblastic leukemia Mild short stature Broad nasal tip Coarse facial features Flat face Lethargy Dolichocephaly Protruding ear Umbilical hernia Apnea Leukemia Foot dorsiflexor weakness Short stature Neutropenia Eczema Behavioral abnormality Recurrent otitis media Gingival overgrowth Cerebellar gliosis



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