Microcephaly, and Smooth philtrum

Diseases related with Microcephaly and Smooth philtrum

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

Top matches:

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Other less relevant matches:

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).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, 64; EIEE64

Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Top 5 symptoms//phenotypes associated to Microcephaly and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microcephaly and Smooth philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Upslanted palpebral fissure Epicanthus Abnormal facial shape Growth delay Macrotia Ptosis Developmental regression Spasticity Wide nasal bridge Delayed speech and language development Hypoplasia of the corpus callosum Short stature Prominent nose

Rare Symptoms - Less than 30% cases

Broad nasal tip Bruxism Progressive microcephaly Postnatal microcephaly Hypotelorism Febrile seizures Unsteady gait Inability to walk Ventriculomegaly Absent speech Encephalopathy Cerebellar hypoplasia Generalized tonic-clonic seizures Focal-onset seizure Hearing impairment Ataxia Long philtrum Hydrocephalus Coarse hair Short nose Highly arched eyebrow Anteverted nares Synophrys Epileptic encephalopathy Cleft lip Aggressive behavior Overweight Round face Wide nose Low-set ears Truncal obesity Depressed nasal bridge Micrognathia Obesity Motor delay Intellectual disability, severe Short philtrum Brachycephaly Neonatal hypotonia Broad-based gait Stereotypy Cerebral visual impairment Oligohydramnios Wide intermamillary distance Short foot Toe syndactyly Widely spaced teeth Muscular hypotonia of the trunk Drooling Syndactyly Progressive spastic quadriplegia Visual impairment Muscular hypotonia Spastic tetraparesis Rhizomelia Tetraparesis Congenital cataract Coarse facial features Cerebellar atrophy Abnormality of the skeletal system Flexion contracture Cataract Yellow-brown discoloration of the teeth Abnormality of dental color Amelogenesis imperfecta Prominent forehead Bilateral ptosis Curly hair 2-3 toe syndactyly Single median maxillary incisor Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Median cleft lip Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Bilateral cleft lip Partial agenesis of the corpus callosum Myopathic facies Midface retrusion Hypohidrosis High palate Brachydactyly Macrocephaly Frontal bossing Microphthalmia Agenesis of corpus callosum Flat occiput Protruding ear Broad forehead Oral cleft Iris coloboma Dental malocclusion Omphalocele Holoprosencephaly Abnormality of dental enamel Hypsarrhythmia Hypoplasia of dental enamel Intellectual disability, mild Cognitive impairment Impaired social interactions Mildly elevated creatine phosphokinase Cupped ear Frequent falls Intention tremor Everted lower lip vermilion Falls Polyphagia Wide mouth Autistic behavior Abnormality of the nervous system Autism Elevated serum creatine phosphokinase Tremor Hypertonia Slender finger Cleft upper lip Downturned corners of mouth Hyperactivity Short neck Low anterior hairline Severe muscular hypotonia Mild microcephaly Intrauterine growth retardation Unilateral cleft lip Abnormality of the cerebellar vermis Horizontal eyebrow Long eyebrows Pain Broad eyebrow Short chin Dystonia Broad thumb Hypermetropia Progressive neurologic deterioration Cerebellar vermis hypoplasia Intellectual disability, profound Abnormality of the cerebral white matter Severe global developmental delay Mental deterioration EEG abnormality Dementia Cerebral atrophy Thin vermilion border Failure to thrive Exudative vitreoretinopathy Spastic diplegia Narrow palate Neurological speech impairment Pointed chin Status epilepticus Long face Cerebral cortical atrophy Dolichocephaly Intellectual disability, moderate Chorea Delayed myelination Hemiparesis Posteriorly rotated ears Limb hypertonia Malar flattening Downslanted palpebral fissures Strabismus Aplasia/Hypoplasia of the corpus callosum Behavioral abnormality Flat nasal alae


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