Microcephaly, and Narrow forehead

Diseases related with Microcephaly and Narrow forehead

In the following list you will find some of the most common rare diseases related to Microcephaly and Narrow forehead that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Other less relevant matches:

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Top 5 symptoms//phenotypes associated to Microcephaly and Narrow forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Narrow forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Hypoplasia of the corpus callosum Hyperreflexia Absent speech Sloping forehead Cerebellar hypoplasia Intellectual disability, severe Motor delay Delayed speech and language development Ventriculomegaly Hypertonia Encephalopathy Open mouth Intellectual disability, profound Low-set ears Agenesis of corpus callosum Hypotelorism Febrile seizures Dysarthria Short stature Bulbous nose Ataxia

Rare Symptoms - Less than 30% cases

Abnormal facial shape Posteriorly rotated ears Status epilepticus Wide nasal bridge Babinski sign Spastic paraplegia Severe muscular hypotonia Progressive microcephaly Failure to thrive Highly arched eyebrow Low-set, posteriorly rotated ears Thick lower lip vermilion High palate Cerebral atrophy Epicanthus Micrognathia Cerebellar atrophy Hyperactivity Pachygyria Polymicrogyria Severe global developmental delay Cortical gyral simplification Partial agenesis of the corpus callosum Neonatal hypotonia Small for gestational age Focal-onset seizure Neurodegeneration Pneumonia Cerebral visual impairment Delayed myelination Depressed nasal bridge Full cheeks Visual impairment Infantile encephalopathy Central hypotonia Hypsarrhythmia Brain atrophy Agitation Tapered finger Retrognathia Kyphoscoliosis Myoclonus Short nose Edema Optic atrophy CNS hypomyelination Protruding tongue Cerebellar vermis atrophy Macrotia Everted upper lip vermilion Feeding difficulties Intrauterine growth retardation Gait disturbance Cerebral cortical atrophy Autism Deeply set eye Excessive salivation Abnormality of the pinna Autistic behavior Eczema Failure to thrive in infancy Hallux valgus Thickened helices Acetabular dysplasia Facial hypotonia Rhabdomyolysis Wide mouth Muscular hypotonia Flexion contracture Talipes equinovarus Dystonia Coarse facial features Pes planus Short philtrum Genu recurvatum Paraplegia Inability to walk Tetraplegia Waddling gait Spastic tetraplegia Nonprogressive cerebellar ataxia Abnormality of the periventricular white matter Upper eyelid edema High pitched voice Congenital microcephaly Difficulty walking Postnatal growth retardation Muscular hypotonia of the trunk Micropenis Intellectual disability, mild Ptosis Nystagmus Nasogastric tube feeding in infancy Abnormal CNS myelination Progressive spasticity Drooling Postnatal microcephaly Broad-based gait Generalized tonic-clonic seizures Tremor Spontaneous abortion Unilateral polymicrogyria Thick corpus callosum Small cerebral cortex Hypoplasia of the frontal lobes Prominent glabella Cortical dysplasia Neurological speech impairment Attention deficit hyperactivity disorder Intellectual disability, moderate Proptosis Hearing impairment Generalized-onset seizure Epileptic encephalopathy Thick vermilion border Heterotopia Lissencephaly Limb hypertonia Strabismus Palpebral edema Aplasia/Hypoplasia of the corpus callosum Low anterior hairline Long eyelashes Cerebellar vermis hypoplasia Abnormal cerebellum morphology Everted lower lip vermilion Hirsutism Thick eyebrow Poor speech Sparse hair Protruding ear Anteverted nares Few cafe-au-lait spots Abnormality of neuronal migration Mild global developmental delay Microglossia Ectopic kidney Heart murmur Cafe-au-lait spot Microdontia Prominent nose Clinodactyly of the 5th finger Hypospadias Microphthalmia Subependymal nodules Type I lissencephaly Agyria Microphallus Small earlobe


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