Frontal bossing, and Ventriculomegaly

Diseases related with Frontal bossing and Ventriculomegaly

In the following list you will find some of the most common rare diseases related to Frontal bossing and Ventriculomegaly 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

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Other less relevant matches:

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).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, 49; EIEE49

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

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Ventriculomegaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Seizures Absent speech Hydrocephalus Motor delay Hypertelorism Proptosis Deeply set eye Prominent forehead Triangular face Ataxia Overgrowth Muscular hypotonia Low-set ears High forehead Macrotia High palate Hyperactivity Autism Tall stature Delayed speech and language development

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Wide nasal bridge Poor speech Malar flattening Congenital hip dislocation Posteriorly rotated ears Cerebellar atrophy Growth delay Epicanthus Hypotelorism EEG abnormality Failure to thrive Cognitive impairment Prominent nose Polymicrogyria Short philtrum Cerebellar vermis hypoplasia Enlarged cisterna magna Infra-orbital crease Microcephaly Spasticity Cryptorchidism Optic atrophy Hip dislocation Open mouth Facial asymmetry Mandibular prognathia Long face Micropenis Myopia Abnormal cerebellum morphology Cerebral cortical atrophy Platyspondyly Pes planus Midface retrusion Disproportionate tall stature Dilatation Kyphosis Strabismus Attention deficit hyperactivity disorder Gait ataxia Arrhythmia Mitral regurgitation Abnormality of the sternum Wide mouth Finger syndactyly Abnormality of cardiovascular system morphology Hypertrichosis Bifid uvula Camptodactyly Toe syndactyly Neoplasm Gingival overgrowth Depressed nasal bridge Joint dislocation Aortic regurgitation Relative macrocephaly Flexion contracture Cervical spine instability Pulmonary artery aneurysm Aortic dissection Dilatation of the cerebral artery Striae distensae Joint hyperflexibility Aortic aneurysm Skeletal dysplasia Joint hypermobility Scoliosis Full cheeks Short neck Megalencephaly Long foot Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Hypoplasia of the corpus callosum Large hands Behavioral abnormality Short nose Hernia Inguinal hernia Clinodactyly of the 5th finger Narrow mouth Wide nose Hypoplasia of penis Pointed chin Lissencephaly Long fingers Sparse eyebrow Arnold-Chiari malformation Visceral angiomatosis Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Abnormality of nervous system morphology Lumbar hyperlordosis Asymmetric growth Retrocerebellar cyst Upslanted palpebral fissure Kyphoscoliosis Difficulty walking Joint laxity Hyperlordosis Prominent nasal bridge Arachnodactyly High myopia Disorganization of the anterior cerebellar vermis Thick upper lip vermilion Abnormality of the philtrum Chronic diarrhea Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Diarrhea Hypoglycemia Narrow forehead Torticollis Turricephaly Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Feeding difficulties Recurrent infections Rod-cone dystrophy Coronal craniosynostosis Thin ribs Feeding difficulties in infancy Osteopenia Immunodeficiency Autistic behavior Microtia Abnormality of the foot Febrile seizures Short stature Pectus excavatum Retrognathia High pitched voice Postnatal growth retardation Craniosynostosis Recurrent fractures Oligohydramnios Blue sclerae Wormian bones Microretrognathia Reduced bone mineral density Polydactyly Hirsutism Microphallus Neurological speech impairment Fusion of the left and right thalami Nystagmus Tremor Intellectual disability, severe Thin upper lip vermilion Neonatal hypotonia Intellectual disability, moderate Dysmetria Long eyelashes Focal-onset seizure Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Holoprosencephaly Spastic tetraplegia Postaxial polydactyly Encephalopathy Thick vermilion border Intellectual disability, profound Encephalocele Deep philtrum Molar tooth sign on MRI Hyperreflexia Hypertonia Myoclonus Cerebral calcification Coarse facial features Anxiety Muscular hypotonia of the trunk Severe global developmental delay Everted lower lip vermilion Tetraplegia Dandy-Walker malformation Epileptic encephalopathy Large for gestational age


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