Microcephaly, and Rigidity

Diseases related with Microcephaly and Rigidity

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


Top matches:

Medium match SCHIZOPHRENIA; SCZD


Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5


MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by Berryer et al., 2013).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

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Other less relevant matches:

Medium match SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY


Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A


Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Medium match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Medium match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Medium match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

Medium match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Medium match HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM


Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Top 5 symptoms//phenotypes associated to Microcephaly and Rigidity

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Muscular hypotonia of the trunk Abnormality of extrapyramidal motor function Dystonia Ataxia Tremor Small for gestational age Difficulty walking Myoclonus Encephalopathy Delayed speech and language development Dyskinesia EEG abnormality Gait disturbance Nystagmus Babinski sign Choreoathetosis Progressive neurologic deterioration Lower limb spasticity Bradykinesia Muscle weakness Optic atrophy Cognitive impairment Involuntary movements Toe walking Growth delay

Rare Symptoms - Less than 30% cases


Increased variability in muscle fiber diameter Hypertonia Intellectual disability, progressive Abnormality of the nervous system Irritability Poor speech Hyperactivity Dysarthria Transient hyperphenylalaninemia Parkinsonism Clonus Elevated serum creatine phosphokinase Short stature Ptosis Hearing impairment Generalized dystonia Abnormal pyramidal sign Leukodystrophy Excessive salivation Frequent falls Falls Progressive microcephaly Proximal muscle weakness Hyperphenylalaninemia Specific learning disability Hypokinesia Respiratory insufficiency Strabismus Autism Postnatal microcephaly Epileptic encephalopathy Developmental regression Chorea Anxiety Intellectual disability, severe Behavioral abnormality Mental deterioration Attention deficit hyperactivity disorder Muscular dystrophy Hyporeflexia Absent speech Dysmetria Unsteady gait Progressive muscle weakness Polyneuropathy Tetraplegia Spastic tetraplegia Hyperlordosis Flexion contracture Skeletal muscle atrophy Central core regions in muscle fibers Abnormal posturing Abnormal basal ganglia MRI signal intensity Rotary nystagmus Motor deterioration Progressive extrapyramidal movement disorder Progressive extrapyramidal muscular rigidity Cerebellar vermis atrophy Paraparesis Scoliosis Opisthotonus Oral-pharyngeal dysphagia CNS hypomyelination Cataract Spastic paraparesis Gowers sign Spastic gait Hyperkinesis Cerebellar atrophy Horizontal nystagmus Abnormality of eye movement Abnormality of movement Agitation Sleep disturbance Apraxia Truncal ataxia Insulin-resistant diabetes mellitus Aggressive behavior Muscle stiffness Abnormal autonomic nervous system physiology Athetosis Oculomotor apraxia Cerebral palsy Postural tremor Drowsiness Limb hypertonia Fever Increased adipose tissue Drooling Visual impairment Congenital muscular dystrophy Spinal rigidity Increased connective tissue Temperature instability Oculogyric crisis Hyperhidrosis Excessive daytime sleepiness Hypersomnia Pain Abnormality of the tongue Abnormality of the nose Hypomimic face Talipes equinovarus Orofacial dyskinesia Cerebral calcification Difficulty running Atonic seizures Autistic behavior Absence seizures Torticollis Focal impaired awareness seizure Language impairment Impulsivity Atypical absence seizures Social and occupational deterioration Hypoplasia of the corpus callosum Cerebral atrophy Retinal degeneration Abnormal cerebellum morphology Delayed myelination Generalized-onset seizure Abnormal electroretinogram Muscular hypotonia Personality disorder Failure to thrive Akinesia Depressivity Dementia Psychosis Hallucinations Increased body weight Schizophrenia Alzheimer disease Mania Neurofibrillary tangles Bipolar affective disorder Delusions Preeclampsia Borderline personality disorder Mood swings Auditory hallucinations Cortical gyral simplification Feeding difficulties Centrally nucleated skeletal muscle fibers Limb tremor Ankle clonus Freckling Progressive spastic paraplegia Loss of speech Moderate global developmental delay Loss of ability to walk Peripheral neuropathy Paraplegia Cardiomyopathy Myopathy Ophthalmoplegia Peripheral axonal neuropathy Stereotypy Mildly elevated creatine phosphokinase Resting tremor Hemolytic anemia Spastic paraplegia Vomiting Hypoventilation Constipation Respiratory failure Gastroesophageal reflux Apnea Feeding difficulties in infancy Polymicrogyria Poor eye contact Central hypoventilation Skin rash Abnormal muscle tone Congenital encephalopathy Dysphagia Postural instability Poor suck Episodic fever Excessive daytime somnolence Cerebral hypomyelination



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