Macrocephaly, and Delayed myelination

Diseases related with Macrocephaly and Delayed myelination

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

Top matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Other less relevant matches:

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Medium match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Macrocephaly and Delayed myelination

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

Other less frequent symptoms

Patients with Macrocephaly and Delayed myelination. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Strabismus Delayed speech and language development Hepatomegaly Encephalopathy Irritability Abnormal facial shape Prominent forehead Nystagmus Anteverted nares Hyperactivity Developmental regression Visual impairment Dystonia Frontal bossing Deeply set eye Cerebral atrophy Muscular hypotonia Aciduria Downturned corners of mouth Short stature Ataxia Spasticity Inability to walk Scoliosis Cognitive impairment Cerebral visual impairment Autism Failure to thrive

Rare Symptoms - Less than 30% cases

Dilation of lateral ventricles Absent speech Brachycephaly Hypertonia Delayed CNS myelination Brachydactyly Motor delay Infantile encephalopathy Spastic paraplegia Broad forehead Poor speech Coarse facial features D-2-hydroxyglutaric aciduria Inspiratory stridor Vomiting Glutaric aciduria Paraplegia Stridor Cardiomyopathy Wide nasal bridge Hearing impairment Sensorineural hearing impairment Anxiety Cryptorchidism Low-set ears Obesity Constipation Synophrys Behavioral abnormality Downslanted palpebral fissures Hypoplasia of the corpus callosum Poor eye contact Hydrocephalus Respiratory insufficiency Focal-onset seizure Muscle weakness Tremor Ventriculomegaly Respiratory distress Open mouth Apraxia Clinodactyly Abnormality of extrapyramidal motor function Cerebellar hypoplasia Hypsarrhythmia Generalized myoclonic seizures Apnea Dolichocephaly Broad nasal tip Epileptic encephalopathy Delayed gross motor development Severe muscular hypotonia Neurological speech impairment EEG abnormality Abnormal vertebral morphology Clonus Finger clinodactyly Oculomotor apraxia Horizontal nystagmus Type I transferrin isoform profile Widely spaced teeth Bilateral ptosis Patent foramen ovale Hypoplastic toenails Short thumb Supernumerary nipple Narrow nasal bridge Spinal canal stenosis Syringomyelia Clumsiness Central hypotonia Decreased body weight Short chin Exotropia Microretrognathia Global brain atrophy Self-mutilation Tethered cord Abnormality of lateral ventricle Ptosis Infantile spasms Hypospadias Clinodactyly of the 5th finger Sleep disturbance Thin upper lip vermilion Abnormal bleeding Abnormal pyramidal sign Joint hypermobility Highly arched eyebrow Tapered finger Blue sclerae Hypertrichosis Abnormality of brain morphology Adducted thumb Small hand Poor head control Chordee Vertigo Lower limb hypertonia Bulbar palsy Large fontanelles Exercise intolerance Joint dislocation Cerebral palsy Leukoencephalopathy Hyperkinesis Encephalitis Hemiplegia Intracranial hemorrhage Spastic diplegia Malnutrition Opisthotonus Malignant hyperthermia Dehydration Generalized dystonia Ketonuria Cerebral ischemia Abnormality of the retinal vasculature Decreased plasma carnitine Fasting hypoglycemia Acute encephalopathy Retinal hemorrhage Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Ketonemia Choreoathetosis Neuronal loss in central nervous system Narrow nasal tip Rigidity Cerebral white matter hypoplasia Fever Gait disturbance Dysphagia Edema Myopathy Headache Dilatation Dementia Hyperhidrosis Acidosis Hypoglycemia Feeding difficulties in infancy Migraine Respiratory tract infection Paralysis Stroke Abnormality of the cerebral white matter Abnormality of eye movement Abnormality of movement Long philtrum Dyskinesia Metabolic acidosis Coma Abnormal cerebellum morphology Gliosis Recurrent infections Structural foot deformity Intellectual disability, severe Stomatocytosis Hyperreflexia Splenomegaly Macrotia Jaundice Hepatosplenomegaly Hemolytic anemia Hyperbilirubinemia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Hemoglobinuria Cataract Zonular cataract Hypoglycorrhachia High palate Depressed nasal bridge Autistic behavior Short philtrum Pectus carinatum Prominent nasal bridge Self-injurious behavior Chronic constipation Lumbar scoliosis Anemia L-2-hydroxyglutaric aciduria Dysarthria Large forehead Short nose Retrognathia Aggressive behavior Intellectual disability, moderate Attention deficit hyperactivity disorder Stereotypy Drooling Relative macrocephaly Language impairment Delayed ability to walk Speech apraxia Apathy Gastroesophageal reflux Hyperlordosis Microtia Long face Postnatal macrocephaly Neoplasm Agenesis of corpus callosum Dyspnea Postnatal microcephaly Optic nerve hypoplasia Poor suck Asymmetry of the ears Myopia Optic atrophy Shock Myoclonus Cerebral cortical atrophy Mandibular prognathia Skeletal dysplasia Protruding ear Lethargy Flat face Involuntary movements Absence seizures Aortic regurgitation Focal impaired awareness seizure Blindness Turricephaly Increased CSF protein Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Narrow naris Anteverted ears Cardiogenic shock Subependymal cysts Multifocal cerebral white matter abnormalities Flexion contracture Malar flattening Micrognathia Abnormality of the skeletal system Lumbar hyperlordosis Talipes equinovarus Kyphosis Difficulty walking Muscular hypotonia of the trunk Hip dislocation Generalized tonic-clonic seizures Abnormality of the foot Unsteady gait Retinal dystrophy Urinary incontinence Waddling gait Tetraparesis Focal myoclonic seizures Broad-based gait Lower limb spasticity Fasciculations Progressive spastic paraplegia Overweight Cerebral white matter atrophy Puberty and gonadal disorders Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Subdural hemorrhage


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