Frontal bossing, and Focal seizures, afebril

Diseases related with Frontal bossing and Focal seizures, afebril

In the following list you will find some of the most common rare diseases related to Frontal bossing and Focal seizures, afebril that can help you solving undiagnosed cases.


Top matches:

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

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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 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Medium match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Medium match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Medium match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Top 5 symptoms//phenotypes associated to Frontal bossing and Focal seizures, afebril

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

Patients with Frontal bossing and Focal seizures, afebril. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Mandibular prognathia Hyperactivity Strabismus Focal impaired awareness seizure Muscular hypotonia High palate Brachycephaly Cryptorchidism Micrognathia Delayed speech and language development Coarse facial features Tremor Neurological speech impairment Ventriculomegaly Feeding difficulties Abnormal facial shape Short stature Hydronephrosis Protruding ear Absence seizures Prominent forehead Epicanthus Downslanted palpebral fissures Autism Anteverted nares Cognitive impairment Hypermetropia Microcephaly Short foot Gastroesophageal reflux Deeply set eye Cerebral atrophy Cerebral cortical atrophy Malar flattening Vomiting Nystagmus Cupped ear Postnatal growth retardation Open mouth Hearing impairment Low-set ears Motor delay Depressed nasal bridge Intellectual disability, severe Poor speech Short nose Macrotia

Rare Symptoms - Less than 30% cases


Prominent nose Hypotelorism Short philtrum Narrow forehead Neonatal hypotonia Thin upper lip vermilion Brain atrophy Vesicoureteral reflux Gait ataxia Dilatation Choreoathetosis Spasticity Abnormal cardiac septum morphology Hypoplasia of the corpus callosum Posteriorly rotated ears Growth delay Hypertelorism Tented upper lip vermilion Widely spaced teeth Febrile seizures Esotropia Everted lower lip vermilion Synophrys Wide mouth Constipation Fever Myopia Ptosis Atrial septal defect Visual impairment Highly arched eyebrow Short palm Facial asymmetry Absent speech Retrognathia High forehead Turricephaly Epileptic encephalopathy Flat face Dolichocephaly Cleft palate Encephalopathy Wide nasal bridge Patent ductus arteriosus Language impairment Ataxia Microtia Recurrent otitis media Inspiratory stridor Failure to thrive Short neck Broad forehead Aggressive behavior Delayed myelination Long face Limb hypertonia Hydrocele testis Cystic hygroma Depressivity Vertical nystagmus Hoarse cry Anal stenosis Large fleshy ears Pain Ventricular septal defect Diarrhea Syndactyly Microphthalmia Abnormality of cardiovascular system morphology Hypospadias Anxiety Pectus excavatum Pulmonic stenosis Otitis media Abdominal distention Delayed eruption of teeth Tapered finger Iris coloboma Falls Cleft upper lip Abnormality of the cerebral white matter Abnormal heart morphology Finger syndactyly Pectus carinatum Camptodactyly of finger Coloboma Abnormality of the kidney Telecanthus Overfolded helix Agenesis of corpus callosum Prominent occiput Congenital diaphragmatic hernia Patent foramen ovale Hyperreflexia Proptosis Long philtrum Splenomegaly Hypertonia Cerebellar atrophy Dyspnea Kyphoscoliosis Umbilical hernia Inguinal hernia Hepatosplenomegaly Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Polyphagia Hernia Hyporeflexia Abnormality of the urinary system Thin vermilion border Amblyopia Hepatomegaly Dehydration Optic atrophy Abnormality of the skeletal system Short distal phalanx of finger Pulmonary hypoplasia Anal atresia Kyphosis Prominent nasal bridge Edema Abnormality of the pinna Cleft lip Muscular hypotonia of the trunk Polyhydramnios Upslanted palpebral fissure Tetralogy of Fallot Sparse scalp hair Sloping forehead Rigidity Slurred speech Abnormality of extrapyramidal motor function Bradykinesia Cerebral calcification Parkinsonism Dyskinesia Abnormality of movement Dementia Megalencephaly Dysarthria Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Resting tremor Lewy bodies Atypical absence seizures Increased number of teeth Bicoronal synostosis Metopic synostosis Brachyturricephaly Anterior plagiocephaly Cloverleaf skull Cleft soft palate Coronal craniosynostosis Visual field defect Shuffling gait Triphalangeal thumb Trigonocephaly Wormian bones Craniosynostosis Headache Brachydactyly Cogwheel rigidity Uplifted earlobe Happy demeanor Coarctation of aorta Drooling Rocker bottom foot Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Pyloric stenosis Poor suck Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Ectopic kidney Cutaneous syndactyly Pointed chin Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Developmental regression Fine hair Hallux valgus Supernumerary nipple Deep plantar creases Bruxism Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Abnormality of the gastrointestinal tract Submucous cleft hard palate Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Self-injurious behavior Finger clinodactyly Infantile muscular hypotonia Lethargy Cerebral visual impairment Involuntary movements Hypsarrhythmia Increased mean corpuscular volume Aciduria Broad nasal tip Thoracolumbar kyphosis Hypochromic anemia Severe muscular hypotonia Irritability Apnea Skeletal dysplasia Hyperplasia of the maxilla Myoclonus Abnormality of the optic disc J-shaped sella turcica Communicating hydrocephalus Aortic regurgitation Morphological abnormality of the central nervous system Narrow naris Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Subependymal cysts Cardiogenic shock Glutaric aciduria Infantile encephalopathy Anteverted ears Generalized tonic seizures Shock Episodic vomiting Periventricular leukomalacia Delayed CNS myelination Dilation of lateral ventricles Increased CSF protein Beaking of vertebral bodies Stridor Obstructive lung disease Blindness Edema of the lower limbs Intellectual disability, moderate Dermatan sulfate excretion in urine Intervertebral space narrowing Triangular face Abnormal cerebellum morphology Dysmetria Attention deficit hyperactivity disorder Dysplastic aortic valve Intention tremor Localized skin lesion Abnormality of nasopharyngeal adenoids Hyperlordosis Micropenis Cerebellar hypoplasia Generalized myoclonic seizures Delayed gross motor development Cerebellar vermis hypoplasia Scrotal hypoplasia Cardiomyopathy Disorganization of the anterior cerebellar vermis Respiratory distress Respiratory insufficiency Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Muscle weakness Anisopoikilocytosis Short digit Infra-orbital crease Prominent supraorbital ridges Retrocerebellar cyst Abnormality of the philtrum Microphallus Enlarged cisterna magna Poor eye contact Long nose External genital hypoplasia Abnormality of mucopolysaccharide metabolism Scoliosis Abnormality of the skull Joint stiffness Pulmonary arterial hypertension Abnormality of the cardiovascular system Autistic behavior Feeding difficulties in infancy EEG abnormality Mitral valve prolapse Clinodactyly of the 5th finger Clinodactyly Mitral regurgitation Astigmatism Abnormality of the face Thickened skin Unicornuate uterus Pancreatic aplasia Pica Ureteral atresia Aplasia of the vagina Cyanosis Bulbous nose Abnormality of upper lip Tachycardia Sandal gap Short chin Postnatal macrocephaly Generalized hirsutism Low anterior hairline Stereotypy Dental crowding Hypoplasia of penis Thick eyebrow Hip dysplasia Ascites Macroglossia Sleep disturbance Limitation of joint mobility Small hand Downturned corners of mouth Hypoplasia of the bladder Ureterocele Insomnia Heart murmur Renal hypoplasia Bilateral sensorineural hearing impairment Oligohydramnios Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Stage 5 chronic kidney disease Pericardial effusion Hypertrichosis Nail dystrophy Protruding tongue Elevated hepatic transaminase Distal arthrogryposis Protuberant abdomen Diabetes mellitus Renal insufficiency Small nail Recurrent urinary tract infections Hyperconvex nail Upper limb undergrowth Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Shawl scrotum Large fontanelles Long fingers Unilateral renal agenesis Progressive hearing impairment Schizophrenia Renal hypoplasia/aplasia Multicystic kidney dysplasia Horizontal nystagmus Sparse and thin eyebrow Unicoronal synostosis



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