Failure to thrive, and Blindness

Diseases related with Failure to thrive and Blindness

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR ). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (OMIM ) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblG is caused by mutation in the MTR gene.

METHYLCOBALAMIN DEFICIENCY TYPE CBLE Is also known as functional methionine synthase deficiency type cble|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type|methylcobalamin deficiency, cble type|vitamin b12-responsive homocystinuria, cble type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLE

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Blindness

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cerebral visual impairment Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Blindness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hyperreflexia Hypoplasia of the corpus callosum Nystagmus Hypertonia Respiratory insufficiency Cerebral cortical atrophy Cerebral atrophy Muscle weakness Muscular hypotonia of the trunk Ophthalmoplegia Dysphagia Spasticity

Rare Symptoms - Less than 30% cases

Muscular hypotonia Retinal degeneration Chorea Macular degeneration External ophthalmoplegia Ophthalmoparesis Lethargy Cortical gyral simplification Anemia Exaggerated startle response Growth delay Orofacial dyskinesia Hearing impairment Hepatomegaly Delayed myelination Neonatal hypotonia Ventriculomegaly Elevated hepatic transaminase Cerebellar atrophy Dysmetria Pigmentary retinopathy Motor delay Tetraparesis Dysarthria Abnormal pyramidal sign Visual loss Ataxia Babinski sign Spastic tetraparesis Dementia Hypsarrhythmia Reduced visual acuity Spastic tetraplegia Mental deterioration Ptosis Pain Cortical dysplasia Profound global developmental delay Dilation of lateral ventricles Pseudobulbar signs Long foot Hypoplasia of the pons Primitive reflex Arrhythmia Progressive encephalopathy Progressive spastic quadriplegia Glabellar reflex Large hands Inappropriate behavior Punctate periventricular T2 hyperintense foci Infantile axial hypotonia Abnormal fear/anxiety-related behavior GM2-ganglioside accumulation Micrognathia Encephalopathy Cerebellar hypoplasia Hyperacusis Macrotia Sloping forehead Abnormal involuntary eye movements Progressive microcephaly Loss of speech Cherry red spot of the macula Limb dystonia Bundle branch block Elevated serum creatine phosphokinase Increased body weight Recurrent infections Thrombocytopenia Pneumonia Abnormality of the nervous system Autistic behavior Neutropenia Increased bone mineral density Recurrent bacterial infections Splenomegaly Leukopenia Increased antibody level in blood Enlarged kidney Anisocytosis Poikilocytosis Extramedullary hematopoiesis Giant platelets Congenital neutropenia Immunodeficiency Multiple mitochondrial DNA deletions Constipation Increased serum lactate Acidosis Gastroesophageal reflux Myalgia Facial palsy Irritability Abnormality of the liver Limb muscle weakness Lactic acidosis Progressive muscle weakness Cytochrome C oxidase-negative muscle fibers Exercise intolerance Easy fatigability Glucose intolerance Poor head control Progressive external ophthalmoplegia Ketosis Left bundle branch block Gastroparesis Apathy Gait disturbance Aspiration Spinocerebellar tract degeneration Incoordination Blurred vision Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Head tremor Olivopontocerebellar atrophy Abnormality of extrapyramidal motor function Limb tremor Supranuclear ophthalmoplegia Spinocerebellar atrophy Sensorineural hearing impairment Cryptorchidism Intrauterine growth retardation Schizophrenia Neuronal loss in central nervous system Renal insufficiency Epileptic encephalopathy Decreased body weight Intellectual disability Absent speech Abnormality of the cerebral white matter Polymicrogyria Inability to walk Optic atrophy Progressive visual loss Tremor Areflexia Retinopathy Spastic paraplegia Paraplegia Dyskinesia Progressive cerebellar ataxia Edema Rod-cone dystrophy Generalized myoclonic seizures Cognitive impairment Homocystinuria Decreased methylcobalamin Hyperhomocystinemia Decreased methionine synthase activity Hypomethioninemia Short stature Dystonia Reduced consciousness/confusion Myoclonus Anxiety Developmental regression Postnatal growth retardation Paralysis Severe global developmental delay Neurodegeneration Methylmalonic aciduria Megaloblastic anemia Micropenis Sensory impairment Status epilepticus Attenuation of retinal blood vessels Macular edema Cystoid macular edema Congestive heart failure Photophobia Psychosis Decreased nerve conduction velocity Cone/cone-rod dystrophy Dysdiadochokinesis Restless legs Hemeralopia Abnormal fundus morphology Aciduria Intellectual disability, progressive Myelofibrosis


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