Macrocephaly, and Cerebral atrophy

Diseases related with Macrocephaly and Cerebral atrophy

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

Top matches:

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Other less relevant matches:

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

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

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Top 5 symptoms//phenotypes associated to Macrocephaly and Cerebral atrophy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Cerebral atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality Cerebral cortical atrophy Encephalopathy Hyperactivity Mental deterioration Microcephaly Failure to thrive

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Epileptic encephalopathy Thick eyebrow EEG abnormality Autism Prominent forehead Relative macrocephaly Strabismus Absent speech Gait ataxia Developmental regression Gingival overgrowth Low-set ears Focal impaired awareness seizure Enlarged cisterna magna Focal-onset seizure Delayed speech and language development Frontal bossing Prominent supraorbital ridges Poor speech Gastroesophageal reflux Hypoplasia of the corpus callosum Peripheral neuropathy Depressed nasal bridge Cognitive impairment Prominent nose Pain Ventriculomegaly Abnormality of the cerebral white matter Motor delay Hypertonia Ataxia Autistic behavior Generalized tonic-clonic seizures Falls Open mouth Generalized myoclonic seizures External genital hypoplasia Esotropia Intellectual disability, progressive Tented upper lip vermilion Atonic seizures Abnormality of the periventricular white matter Highly arched eyebrow Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Aggressive behavior High forehead Broad-based gait Widely spaced teeth Broad columella Leukodystrophy Tics Developmental stagnation Neurogenic bladder Ptosis Progressive spasticity Progressive microcephaly Everted lower lip vermilion Downslanted palpebral fissures Dysphagia Abnormality of the dentition Recurrent respiratory infections Posteriorly rotated ears Myoclonus Stereotypy Atypical absence seizures Frontotemporal cerebral atrophy Long nose Retrocerebellar cyst Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Neurological speech impairment Dysmetria Long face Abnormal cerebellum morphology Thin upper lip vermilion Abnormality of the philtrum Microphallus Triangular face Poor eye contact Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Deeply set eye Macrotia CNS infection Cryptorchidism Downturned corners of mouth EEG with focal sharp slow waves Nystagmus Abnormal facial shape Unsteady gait Muscular hypotonia Constipation Tremor Thick lower lip vermilion Hyporeflexia Dilatation Short nose Feeding difficulties Cerebellar hypoplasia Disorganization of the anterior cerebellar vermis Micropenis Infra-orbital crease Mandibular prognathia Hyperbilirubinemia Optic disc pallor Glaucoma Episodic abdominal pain Hyperlipoproteinemia Chronic pancreatitis Epigastric pain Eruptive xanthomas Lipemia retinalis Increased circulating chylomicron concentration Hydrocephalus Stroke Pancreatitis Polymicrogyria Nevus Hemiparesis Cafe-au-lait spot Hemangioma Arnold-Chiari malformation Congenital glaucoma Nevus flammeus Hypercholesterolemia Hypertriglyceridemia Buphthalmos Progressive neurologic deterioration Growth delay Intrauterine growth retardation Postnatal growth retardation Brain atrophy Absence seizures Dysarthria Cerebellar atrophy Progressive cerebellar ataxia Leukoencephalopathy Lethargy Megalencephaly Motor deterioration Diffuse white matter abnormalities Diffuse swelling of cerebral white matter Hepatomegaly Splenomegaly Abdominal pain Hepatosplenomegaly Abnormality of the nervous system Abnormality of the vasculature Stroke-like episode Sloping forehead Secundum atrial septal defect Atrial septal defect Elevated hepatic transaminase Pulmonic stenosis Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Decreased liver function Portal fibrosis Muscle weakness Hypermethioninemia Narrow foot Short stature Flexion contracture Dystonia Areflexia Coarse facial features Muscular hypotonia of the trunk Smooth philtrum Skeletal muscle atrophy Sensorineural hearing impairment Facial hemangioma Dental crowding Choroidal hemangioma Arachnoid hemangiomatosis Visual impairment Clinodactyly Difficulty walking Inability to walk Overgrowth Hypsarrhythmia Cerebral visual impairment Hypertelorism Sandal gap Self-injurious behavior Flat occiput Global brain atrophy Epileptic spasms Small earlobe Abnormal palmar dermatoglyphics Obtundation status Hearing impairment Happy demeanor


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