Ataxia, and Thick vermilion border

Diseases related with Ataxia and Thick vermilion border

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


Top matches:

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Medium match CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME


Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

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

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Medium match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Medium match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Ataxia and Thick vermilion border

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Thick vermilion border. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Thick lower lip vermilion

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Macrocephaly Deeply set eye Autistic behavior Strabismus Wide mouth Hyperactivity Cerebellar hypoplasia Absent speech Intellectual disability, severe Aggressive behavior Gait ataxia Short stature Macrotia Hirsutism Low-set ears High palate Growth delay Microcephaly Feeding difficulties Cerebral cortical atrophy Bulbous nose Spasticity Epicanthus Hypotelorism EEG abnormality Protruding ear Long face Motor delay Coarse facial features

Rare Symptoms - Less than 30% cases


Pointed chin Palpebral edema Long philtrum Broad nasal tip Scoliosis Nonprogressive cerebellar ataxia Low anterior hairline Cerebellar vermis hypoplasia Abnormal cerebellum morphology Intellectual disability, mild Self-injurious behavior Delayed speech and language development Failure to thrive Micrognathia Deep philtrum Gait disturbance Autism Hearing impairment Gastroesophageal reflux Overgrowth Broad forehead Depressed nasal ridge Constipation Hypertelorism Thick eyebrow Narrow forehead Pectus carinatum Poor speech Hypertrichosis Narrow mouth Short philtrum Hypertonia Stereotypy Anteverted nares Impaired social interactions Developmental regression Unilateral cryptorchidism Neurofibromas Abnormality of the sternum Speech apraxia Sensorineural hearing impairment Abnormal pulmonary valve morphology Cranial asymmetry Aplasia/Hypoplasia of the optic nerve Optic nerve hypoplasia Muscular hypotonia Positive Romberg sign Large for gestational age Abnormal social behavior Accelerated skeletal maturation Obsessive-compulsive behavior Underdeveloped nasal alae Hypoplastic hippocampus Short palpebral fissure Hippocampal atrophy Postnatal microcephaly Short ear Mesiodens Tall stature Narrow nasal tip Abnormality of cardiovascular system morphology Thin upper lip vermilion Poor motor coordination Pulmonic stenosis Cryptorchidism Abnormal cortical gyration Dysarthria Flexion contracture Aplasia/Hypoplasia of the cerebellum Unsteady gait Choreoathetosis Dysmetria Narrow face Abnormal pyramidal sign Neonatal hypotonia Basal ganglia calcification Generalized myoclonic seizures High-frequency hearing impairment Attention deficit hyperactivity disorder Cerebellar atrophy Abnormality of the basal ganglia Nystagmus Edema Wide nose Cerebral calcification Hyperreflexia Mandibular prognathia Ventriculomegaly Tremor Hydrocephalus Inguinal hernia Dementia Prominent forehead High forehead Memory impairment Difficulty walking Brisk reflexes Neurodegeneration Prominent nose Dandy-Walker malformation Infantile muscular hypotonia Intention tremor Large forehead Gingival overgrowth Hyperlordosis Highly arched eyebrow Progressive language deterioration Agenesis of corpus callosum Posteriorly rotated ears Low-set, posteriorly rotated ears Sparse hair Everted lower lip vermilion Long eyelashes Unilateral ptosis Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Limb hypertonia Congenital microcephaly Upper eyelid edema Intrauterine growth retardation Abnormality of the pinna Flared nostrils Bruxism Severe global developmental delay Apnea Brachycephaly Prominent supraorbital ridges Large hands Ptosis Hyporeflexia Abnormality of the nervous system Neurological speech impairment Hyperventilation Focal-onset seizure Generalized-onset seizure Reduced tendon reflexes Delayed gross motor development Language impairment Loss of consciousness Cortical dysplasia Small for gestational age Febrile seizures Joint laxity Postaxial polydactyly Frontal bossing Recurrent infections Rod-cone dystrophy Polydactyly Feeding difficulties in infancy Polymicrogyria Intellectual disability, profound Congenital, generalized hypertrichosis Encephalocele Molar tooth sign on MRI Enlarged cisterna magna Infra-orbital crease Behavioral abnormality Pes planus Anxiety Wide nasal bridge Thoracic kyphoscoliosis Eczema Synophrys Failure to thrive in infancy Hallux valgus Thickened helices Small earlobe Cognitive impairment Abnormality of the dentition Kyphoscoliosis Delayed eruption of teeth Generalized hypertrichosis Generalized hirsutism Widely spaced teeth Relative macrocephaly Peritonitis Gingival fibromatosis Wide nasal base Thick nasal alae Segmental myoclonic seizures



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