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.
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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
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
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
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
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
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
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
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Skeletal muscle atrophy and Dehydration, related diseases and genetic alterations
High palate and Premature birth, related diseases and genetic alterations
Muscle weakness and Spinal muscular atrophy, related diseases and genetic alterations
Nystagmus and Myoclonus, related diseases and genetic alterations
Scoliosis and Ptosis, related diseases and genetic alterations
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