Frontal bossing, and Febrile seizures

Diseases related with Frontal bossing and Febrile seizures

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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

High match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Other less relevant matches:

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

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

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

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

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Top 5 symptoms//phenotypes associated to Frontal bossing and Febrile seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Postnatal growth retardation Growth delay Microcephaly High palate Intellectual disability, severe Brachycephaly Hypertelorism Autism Absent speech Delayed speech and language development Abnormal facial shape Ptosis Short palm Malar flattening Behavioral abnormality Brachydactyly Hypoplasia of the corpus callosum Midface retrusion Low-set ears Anxiety Muscular hypotonia Short stature Motor delay Posteriorly rotated ears Facial asymmetry Autistic behavior Cryptorchidism

Rare Symptoms - Less than 30% cases

Ventricular septal defect Dental malocclusion Abnormal cardiac septum morphology Craniosynostosis Syndactyly Epicanthus Anteverted nares Hyperreflexia Ventriculomegaly Immunodeficiency Cognitive impairment Hearing impairment Cupped ear Self-injurious behavior Tented upper lip vermilion Apraxia Widely spaced teeth Micrognathia Anterior plagiocephaly Dysarthria Poor speech Nystagmus Happy demeanor Cerebral cortical atrophy Cleft soft palate Broad hallux phalanx Neurological speech impairment Drooling Fine hair Pointed chin Abnormality of the cerebral white matter Coronal craniosynostosis Short philtrum High forehead Wide nasal bridge Spasticity Cleft palate Unicoronal synostosis Bicoronal synostosis Broad eyebrow Low anterior hairline Absence seizures Trigonocephaly Dental crowding Vomiting Everted lower lip vermilion Downturned corners of mouth Proptosis Thick eyebrow Bulbous nose Tall stature Hypermetropia Broad forehead Short nose Myopia Abnormality of the foot Aggressive behavior Encephalopathy Clinodactyly Clinodactyly of the 5th finger Thin upper lip vermilion Constipation Microtia Fever Hyperactivity Short foot Feeding difficulties Sleep disturbance Epileptic encephalopathy Esotropia Prominent nose Ataxia Focal-onset seizure Open mouth Hallux valgus Abnormality of the genitourinary system External ear malformation Recurrent otitis media Abnormality of the genital system Aganglionic megacolon Postnatal microcephaly Depressivity Cutaneous syndactyly Drowsiness Aplasia/Hypoplasia of the corpus callosum Hypospadias Poor suck Rocker bottom foot Abnormality of cardiovascular system morphology Submucous cleft hard palate Dilatation Sparse scalp hair Supernumerary nipple Pyloric stenosis Ectopic kidney Sparse eyebrow Aplasia/Hypoplasia of the cerebellum Bifid scrotum Microphthalmia Sloping forehead Coarctation of aorta Finger syndactyly Deeply set eye Macrotia Mandibular prognathia Hydronephrosis Neurodevelopmental delay Telecanthus Abnormality of the kidney Agenesis of corpus callosum Coloboma Abnormal heart morphology Camptodactyly of finger Pectus carinatum Pulmonic stenosis Dehydration Cleft upper lip Patent ductus arteriosus Pulmonary artery stenosis Iris coloboma Tapered finger Delayed eruption of teeth Pectus excavatum Abdominal distention Brain atrophy Vesicoureteral reflux Otitis media Tetralogy of Fallot Falls Abnormality of the gastrointestinal tract Abnormal eyebrow morphology Hypotelorism Slurred speech Large for gestational age Resting tremor Megalencephaly Lewy bodies Atrial septal defect Shuffling gait Oculomotor apraxia Cerebellar vermis hypoplasia Cogwheel rigidity Headache Dolichocephaly Narrow forehead Abnormal cerebellum morphology Postaxial polydactyly Abnormality of extrapyramidal motor function Developmental regression Depressed nasal bridge Dermal translucency Periorbital fullness Polydactyly Speech apraxia Polymicrogyria Metopic synostosis Wormian bones Brachyturricephaly Cloverleaf skull Turricephaly Increased number of teeth Visual field defect Triphalangeal thumb Choreoathetosis Bradykinesia Low hanging columella Cerebral atrophy Subglottic stenosis Prominent nasal tip Esodeviation Broad columella Large earlobe Bruxism Intellectual disability, mild Deep plantar creases Inability to walk Tracheal stenosis Misalignment of teeth Involuntary movements Severe muscular hypotonia Chronic constipation Dystonia Atypical absence seizures Cerebral calcification Tremor Parkinsonism Dyskinesia Molar tooth sign on MRI Abnormality of movement Rigidity Dementia Elongated superior cerebellar peduncle Uplifted earlobe Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Diarrhea Smooth philtrum Pain Radial deviation of finger Hydrocephalus Prominent forehead Apnea High, narrow palate Hypopigmentation of the skin Bilateral sensorineural hearing impairment Epidermal acanthosis Bradycardia Plagiocephaly Acanthosis nigricans Hypopigmented skin patches Increased intracranial pressure Cone-shaped epiphysis Tracheoesophageal fistula Abnormality of the skeletal system Short middle phalanx of finger Broad hallux Hypermelanotic macule Tarsal synostosis Hypopigmentation of hair Esophageal atresia Carpal synostosis Cone-shaped epiphyses of the phalanges of the hand Upper airway obstruction Aqueductal stenosis Oxycephaly Abnormality of the head Lambdoidal craniosynostosis Parietal foramina Respiratory insufficiency Dysphagia Hemimegalencephaly Hypoplasia of penis Visual impairment Gait ataxia Gastroesophageal reflux Retrognathia Coarse facial features EEG abnormality Feeding difficulties in infancy Protruding ear Wide mouth Synophrys Astigmatism Small hand Highly arched eyebrow Hip dysplasia Stereotypy Hypertension Generalized hirsutism Finger clinodactyly Short chin Sandal gap Infantile muscular hypotonia Focal impaired awareness seizure Language impairment Polyphagia Short attention span Macrodontia Hemifacial hypoplasia Paroxysmal bursts of laughter Abnormality of lower lip Sensorineural hearing impairment Craniofacial asymmetry Synostosis of carpals/tarsals Failure to thrive Narrow nose Long eyelashes Microretrognathia Oligodontia Relative macrocephaly Dermal atrophy Abnormality of dental morphology Overlapping toe Bilateral talipes equinovarus Myopathic facies Long nose Abnormality of digit Restlessness Abnormality of the periventricular white matter Self-mutilation Broad-based gait Short columella Conical tooth Generalized osteoporosis Excessive salivation Overbite Pes valgus Toe clinodactyly Median cleft palate Large beaked nose Dacryocystitis Incomprehensible speech Narrow maxilla Conspicuously happy disposition Narrow jaw Broad thumb Thin skin Capitate-hamate fusion Camptodactyly Short middle phalanx of toe Low-frequency sensorineural hearing impairment Thimble-shaped middle phalanges of hand Flexion contracture Talipes equinovarus Abnormality of the dentition Long philtrum Hernia Inguinal hernia Osteoporosis Hyperhidrosis Narrow mouth Osteopenia Joint laxity Sparse hair Hemiparesis Attention deficit hyperactivity disorder Prominent nasal bridge Joint hyperflexibility Talipes Arachnodactyly Long face Thin vermilion border Wide nose Ectodermal dysplasia Nail dysplasia Convex nasal ridge Decreased testicular size Intellectual disability, profound Short palpebral fissure Poor eye contact


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