Failure to thrive, and Optic atrophy

Diseases related with Failure to thrive and Optic atrophy

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


Top matches:

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

High match STT3B-CDG


STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

High match 3-METHYLGLUTACONIC ACIDURIA TYPE 9


MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

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Other less relevant matches:

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


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

High match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7


Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

High match SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

High match SPINOCEREBELLAR ATAXIA 7; SCA7


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

High match STT3A-CDG


STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

High match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI


Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as striatal degeneration, familial|bilateral striatal necrosis, infantile|ibsn|infantile bilateral striatal necrosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

High match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B


Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Top 5 symptoms//phenotypes associated to Failure to thrive and Optic atrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Feeding difficulties Intrauterine growth retardation Spasticity Ataxia Areflexia Nystagmus Developmental regression Dystonia Increased serum lactate Absent speech Visual loss Scrotal hypoplasia Micropenis Thrombocytopenia Respiratory distress Cryptorchidism Abnormal glycosylation

Rare Symptoms - Less than 30% cases


Ptosis Strabismus Poor head control Hypertonia Hearing impairment Optic disc pallor Tetraplegia Neuronal loss in central nervous system Dysmetria External ophthalmoplegia Intellectual disability, severe Ophthalmoplegia Dysarthria Dysphagia Distal sensory impairment Abnormality of mitochondrial metabolism Abnormal pyramidal sign Epileptic encephalopathy Aciduria Abnormality of eye movement Brain atrophy Abnormality of the cerebral white matter Encephalopathy Muscle weakness Cerebral atrophy Nausea and vomiting Gliosis Nausea Neurodegeneration Generalized-onset seizure Choreoathetosis Abnormality of the eye Optic nerve hypoplasia Acidosis Myoclonus Vomiting Impaired smooth pursuit Decreased liver function Spinocerebellar atrophy Supranuclear ophthalmoplegia Pendular nystagmus Limb tremor Orofacial dyskinesia Olivopontocerebellar atrophy Spinocerebellar tract degeneration Head tremor Involuntary movements Talipes Developmental stagnation Distal muscle weakness Spinal deformities Decreased nerve conduction velocity Delayed gross motor development Respiratory insufficiency due to muscle weakness Increased body weight Foot dorsiflexor weakness Sensorimotor neuropathy Sensory impairment Falls Peripheral axonal neuropathy Bipolar affective disorder Facial palsy Methylmalonic aciduria Proximal muscle weakness Difficulty walking Kyphoscoliosis Pes cavus Hyporeflexia Kyphosis Talipes equinovarus Peripheral neuropathy Scoliosis Glutaric acidemia Abnormality of the basal ganglia Slow saccadic eye movements Hyperreflexia Macular dystrophy Skeletal muscle atrophy Elevated hepatic transaminase Cerebral cortical atrophy Hyperactivity Abnormal facial shape Sensorineural hearing impairment Paralytic ileus Ileus Increased CSF lactate Facial diplegia Polyneuropathy Visual impairment CNS hypomyelination Leukoencephalopathy Postnatal microcephaly Spastic tetraplegia Inability to walk Poor speech 3-Methylglutaconic aciduria Delayed ability to walk Clonus Hypsarrhythmia Abnormality of the genital system Aggressive behavior Episodic fever Blurred vision Retinal degeneration Ophthalmoparesis Incoordination Schizophrenia Macular degeneration Abnormality of extrapyramidal motor function Pigmentary retinopathy Progressive visual loss Chorea Progressive cerebellar ataxia Dyskinesia Paraplegia Corpus callosum atrophy Spastic paraplegia Retinopathy Mental deterioration Reduced visual acuity Dementia Babinski sign Blindness Tremor Cerebral white matter atrophy Cerebral hypomyelination Wrist drop



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