Macrocephaly, and Optic disc pallor

Diseases related with Macrocephaly and Optic disc pallor

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

Top matches:

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

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Other less relevant matches:

Medium match ZELLWEGER SYNDROME

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).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, 47; EIEE47

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Optic disc pallor

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

Other less frequent symptoms

Patients with Macrocephaly and Optic disc pallor. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy

Common Symptoms - More than 50% cases

Visual impairment

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Strabismus Nystagmus Encephalopathy Cataract Hyperreflexia Developmental regression Short stature Cerebral atrophy Areflexia Ataxia Feeding difficulties Muscular hypotonia Visual loss Retinopathy Pigmentary retinopathy Hepatomegaly Epileptic encephalopathy Intrauterine growth retardation Talipes equinovarus Absent speech Inability to walk Dystonia Intellectual disability, severe Sensorineural hearing impairment Cognitive impairment Sloping forehead Failure to thrive Growth delay Hearing impairment Peripheral neuropathy Delayed speech and language development Micrognathia Leukodystrophy Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Limb ataxia Microphthalmia Increased serum lactate EEG abnormality Ventriculomegaly Cerebellar hypoplasia Glaucoma Premature birth Gliosis Progressive cerebellar ataxia Cortical gyral simplification Hypertonia Amblyopia Hepatic failure Stage 5 chronic kidney disease Anteverted nares Abnormality of neuronal migration Wide anterior fontanel Prominent forehead Epicanthus Motor delay Depressed nasal bridge Hypertelorism Scoliosis Malar flattening Delayed skeletal maturation Severe muscular hypotonia Skeletal dysplasia Postnatal microcephaly Pachygyria Corneal opacity Dysmetria Poor speech Leukoencephalopathy Hypsarrhythmia Gait disturbance Macroglossia Wide nasal bridge Severe global developmental delay High palate Dysphagia Babinski sign Hyporeflexia Patent ductus arteriosus Hernia Renal insufficiency Myopathy Skeletal muscle atrophy Flat occiput Ptosis Muscle weakness Prominent nose Thick eyebrow Coarse facial features Abnormality of the helix Agenesis of corpus callosum Respiratory insufficiency Respiratory failure Mental deterioration Pallor Feeding difficulties in infancy Abnormality of the skeletal system Acidosis Kyphoscoliosis Cubitus valgus Aminoaciduria Nephrocalcinosis Opacification of the corneal stroma Intellectual disability, progressive Synostosis of joints Flattened moderately deformed vertebrae Cerebral dysmyelination Reduced tendon reflexes Aplasia/Hypoplasia of the corpus callosum Abnormal electroretinogram Polycystic kidney dysplasia Pyloric stenosis Abnormality of joint mobility Clitoral hypertrophy Multicystic kidney dysplasia Rocker bottom foot Retinal thinning Long ear Metatarsus adductus Abnormality of the gingiva Cranial hyperostosis Ventricular septal defect Spinocerebellar tract disease in lower limbs Vacuolated lymphocytes Thoracolumbar kyphosis High forehead Abnormal echocardiogram Abnormality of coagulation Synovial hypertrophy Decreased liver function Upslanted palpebral fissure Increased vertebral height Posteriorly rotated ears Antineutrophil antibody positivity Elevated hepatic transaminase Hydronephrosis Abnormality of the pinna Malabsorption Abnormality of dental structure Abnormality of the ilium Hypoplastic inferior ilia Progressive joint destruction Decreased pulmonary function Flat face Generalized abnormality of skin Increased hepatic glycogen content Polymicrogyria Rhizomelia Pulmonary hypoplasia Spondylolysis High, narrow palate Cryptorchidism Single transverse palmar crease Renal cyst Round face Aciduria Cholestasis Hypospadias Heterotopia Oligosacchariduria Jaundice Large fontanelles Hypoplasia of dental enamel Elevated long chain fatty acids Congenital glaucoma Abnormality of mitochondrial metabolism Astigmatism Thin upper lip vermilion Long philtrum Downslanted palpebral fissures Brisk reflexes Ophthalmoparesis External ophthalmoplegia Clonus Poor head control Low posterior hairline Spastic tetraplegia Tetraplegia Macular atrophy Hypoplasia of the brainstem Optic nerve hypoplasia Microcornea Proptosis Severe short stature Wide intermamillary distance Frequent falls Chronic constipation Abnormality of retinal pigmentation Retinal fold Vitreoretinopathy Abnormal eyelash morphology Biparietal narrowing Aplasia/Hypoplasia of the cerebellum Cone/cone-rod dystrophy Pointed chin Lymphedema Retinal detachment Long eyelashes Retinal dystrophy Abnormality of skin pigmentation Protruding ear Cerebral cortical atrophy Broad finger Congenital microcephaly Hypoplasia of the pons Mild microcephaly Abnormality of visual evoked potentials Multifocal epileptiform discharges Arnold-Chiari type I malformation Prolonged neonatal jaundice Breech presentation Abnormality of the tongue Hepatic cysts Tapetoretinal degeneration Ulnar deviation of the hand Profound global developmental delay Abnormality of the mitochondrion Labial hypoplasia Redundant neck skin Thickened nuchal skin fold Intestinal lymphangiectasia Bell-shaped thorax Adrenal hypoplasia Posterior embryotoxon External ear malformation Epiphyseal stippling Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Brachyturricephaly Glutaric aciduria Abnormal autonomic nervous system physiology Sudanophilic leukodystrophy Cerebral visual impairment Hypohidrosis Status epilepticus Focal-onset seizure Autism Constipation Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Very long chain fatty acid accumulation Widely patent fontanelles and sutures Abnormal cornea morphology Subependymal cysts Hyperoxaluria Brushfield spots Renal cortical microcysts Albuminuria Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Synovitis Hip dysplasia Abnormality of the rib cage Horizontal nystagmus Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Shock Pancreatitis Exercise intolerance Cardiac arrest Progressive spasticity Aspiration Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Cardiomegaly Congenital diaphragmatic hernia Cyanosis Febrile seizures Pericardial effusion Poor eye contact Brain atrophy Wolff-Parkinson-White syndrome Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Increased CSF lactate Weak cry Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Basal ganglia calcification Migraine Generalized myoclonic seizures Macrovesicular hepatic steatosis Anemia Congestive heart failure Vomiting Blindness Atrial septal defect Edema Cardiomyopathy Respiratory distress Fatigue Abnormal facial shape Myoclonus Neurogenic bladder Developmental stagnation Relative macrocephaly Thick lower lip vermilion Smooth philtrum Hypoplasia of the corpus callosum Flexion contracture Low-set ears Pneumonia Hypoglycemia Abnormal cerebellum morphology Limb muscle weakness Coma Metabolic acidosis Hepatic steatosis Dyskinesia Lactic acidosis Talipes Abnormality of movement Abnormality of eye movement Lethargy Proximal muscle weakness Stroke Abnormal pyramidal sign Abnormality of the liver Irritability Apnea Abnormality of the eye Hypertrophic cardiomyopathy Myalgia Infantile encephalopathy Cardiogenic shock Craniofacial hyperostosis Bowing of the long bones Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Hallucinations Gingival overgrowth Tall stature Progressive neurologic deterioration Prominent supraorbital ridges Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Peripheral demyelination Otitis media Decreased antibody level in blood Increased intracranial pressure Chronic otitis media Delayed myelination Aseptic necrosis Spondylolisthesis Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Limb dystonia Heart murmur Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Dental malocclusion Neurodegeneration Progressive macrocephaly Short neck Recurrent infections Immunodeficiency Kyphosis Splenomegaly Intellectual disability, mild Behavioral abnormality Abnormality of the dentition Hydrocephalus Frontal bossing Depressivity Myopia Dysarthria Pain Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Midface retrusion Inguinal hernia Highly arched eyebrow Pectus carinatum Retinal degeneration Confusion Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Broad forehead Respiratory tract infection Recurrent respiratory infections Anxiety Arthritis Hepatosplenomegaly Umbilical hernia Osteopenia Macrotia Mandibular prognathia Gait ataxia Chorioretinal dysplasia


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