Ataxia, and Highly arched eyebrow

Diseases related with Ataxia and Highly arched eyebrow

In the following list you will find some of the most common rare diseases related to Ataxia and Highly arched eyebrow that can help you solving undiagnosed cases.


Top matches:

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Medium match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

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Other less relevant matches:

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Medium match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Medium match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Medium match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Medium match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Medium match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Top 5 symptoms//phenotypes associated to Ataxia and Highly arched eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Anteverted nares Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Ptosis

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Scoliosis Polymicrogyria Abnormal facial shape Molar tooth sign on MRI Oculomotor apraxia Tremor Absent speech Encephalocele Prominent nasal bridge Low-set, posteriorly rotated ears Hydrocephalus Hypertelorism Low anterior hairline Delayed speech and language development Failure to thrive Breathing dysregulation Epicanthus Wide nasal bridge Feeding difficulties Agenesis of corpus callosum Gait disturbance Aganglionic megacolon Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Biparietal narrowing Cerebellar hypoplasia Apraxia Hand polydactyly Retinal dystrophy Iris coloboma Long face Apnea Oral cleft Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Dysphagia Episodic tachypnea Open mouth Truncal ataxia Nephronophthisis Retinal coloboma Cleft palate Prominent forehead Elongated superior cerebellar peduncle Abnormality of neuronal migration Hypospadias Intellectual disability, mild Joint laxity Clinodactyly Foot polydactyly Abnormality of the eye Abnormality of eye movement Micrognathia Malar flattening Posteriorly rotated ears Hirsutism Aplasia/Hypoplasia of the corpus callosum Poor speech Intellectual disability, severe Growth delay Microcephaly Cognitive impairment Visual impairment Renal insufficiency Polydactyly Coloboma Talipes calcaneovalgus Heterotopia Colpocephaly Broad philtrum Prominent metopic ridge Periventricular gray matter heterotopia Hallux valgus Phimosis Aplasia/Hypoplasia of the ribs Infantile muscular hypotonia Plagiocephaly Abnormality of the cerebral cortex Gynecomastia Stage 5 chronic kidney disease Short palpebral fissure Hypsarrhythmia Wide intermamillary distance Cardiomyopathy High, narrow palate Thick vermilion border Dysmetria Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Gait ataxia Hyperkeratosis Depressed nasal bridge Blindness Obesity Respiratory distress Acidosis Dystonia Congenital lactic acidosis Hyperglycemia Anteriorly placed anus Increased CSF lactate Stroke-like episode CNS demyelination Microvesicular hepatic steatosis Increased hepatocellular lipid droplets Tachypnea Motor delay Nephropathy Delayed gross motor development Hypometric saccades Thickened superior cerebellar peduncle Visual loss Abnormal vertebral morphology Poor suck Leukoencephalopathy Midface retrusion Hepatic steatosis Hypoplasia of the corpus callosum Hypoglycemia Hypertrophic cardiomyopathy Developmental regression Stroke Lactic acidosis Metabolic acidosis Shock Coma Gliosis Increased serum lactate Peripheral demyelination Intention tremor Broad-based gait Decreased liver function Rod-cone dystrophy Nyctalopia Short neck Partial agenesis of the corpus callosum IgA deficiency Atonic seizures Cortical gyral simplification Pachygyria Decreased antibody level in blood Joint hypermobility Synophrys Attention deficit hyperactivity disorder Thick lower lip vermilion Thin upper lip vermilion Constipation Long eyelashes Behavioral abnormality Brachydactyly Palpebral edema IgG deficiency Central apnea Pigmentary retinopathy Abnormality of the liver Renal dysplasia Kyphoscoliosis Abnormal electroretinogram Delayed ability to walk Spasticity High palate Neonatal breathing dysregulation Enlarged fossa interpeduncularis Upper eyelid edema Nonprogressive cerebellar ataxia Congenital microcephaly Limb hypertonia Protruding tongue Hypertension Macrocephaly Multiple renal cysts Hydronephrosis Telecanthus Scarring Progressive visual loss Recurrent urinary tract infections Situs inversus totalis Multicystic kidney dysplasia Abnormal form of the vertebral bodies Cone/cone-rod dystrophy Feeding difficulties in infancy Hypertonia Protruding ear Morning glory anomaly Sparse hair Meningocele Downslanted palpebral fissures Everted lower lip vermilion Narrow forehead Abnormal cerebellum morphology Microphthalmia Pneumonia High forehead Deeply set eye Irritability Occipital encephalocele Short philtrum Thick eyebrow Postaxial polydactyly Renal cyst Dandy-Walker malformation Tented upper lip vermilion Dextrocardia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Skeletal muscle atrophy and Glomerulonephritis, related diseases and genetic alterations High palate and Round face, related diseases and genetic alterations Muscle weakness and Spinal muscular atrophy, related diseases and genetic alterations Nystagmus and Hypoglycemia, related diseases and genetic alterations Scoliosis and Epicanthus, related diseases and genetic alterations

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