Ataxia, and Spina bifida

Diseases related with Ataxia and Spina bifida

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


Top matches:

Low match JOUBERT SYNDROME 17; JBTS17


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Low match ARNOLD-CHIARI MALFORMATION TYPE II


Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match JOUBERT SYNDROME WITH OCULORENAL DEFECT


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

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Spina bifida

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Meningocele Molar tooth sign on MRI Cerebellar vermis hypoplasia Abnormal facial shape Ptosis Strabismus Epicanthus Dandy-Walker malformation Intellectual disability, severe Prominent nasal bridge Highly arched eyebrow Encephalocele Apnea Absent speech Abnormality of the eye Polydactyly Cognitive impairment Open mouth Myelomeningocele Fever Short stature Posteriorly rotated ears Abnormality of the kidney Chorioretinal coloboma Abnormality of neuronal migration Tremor Growth delay Occipital encephalocele Tachypnea Renal cyst Oculomotor apraxia Apraxia Low-set ears Postaxial polydactyly Abnormality of eye movement Coloboma Mental deterioration Long face Hypoplasia of the brainstem Heterotopia Occipital meningocele Spasticity Arnold-Chiari malformation Behavioral abnormality

Rare Symptoms - Less than 30% cases


Multicystic kidney dysplasia Breathing dysregulation Hepatic steatosis Cataract Abnormal heart morphology Syndactyly Visual impairment Congenital cataract Retrognathia Blindness Inguinal hernia Cerebellar atrophy Vesicoureteral reflux Bulbous nose Patent ductus arteriosus Headache Micrognathia Brainstem dysplasia Low-set, posteriorly rotated ears Anemia Scoliosis Hepatic fibrosis Postaxial hand polydactyly Abnormality of cardiovascular system morphology Psychosis Retinal dystrophy Agenesis of cerebellar vermis Episodic tachypnea Aggressive behavior Hyperactivity Conductive hearing impairment Renal agenesis Hypoplasia of the corpus callosum Anteverted nares Renal dysplasia Hernia Hallucinations Aplasia/Hypoplasia of the corpus callosum Cleft palate Renal hypoplasia/aplasia Syringomyelia Partial agenesis of the corpus callosum Abnormality of the nervous system EEG abnormality Encephalitis Ventriculomegaly Hypertension Polycystic kidney dysplasia Gait disturbance Foot polydactyly Hypertelorism Pachygyria Hand polydactyly Agenesis of corpus callosum Depressivity Delusions Biparietal narrowing High palate Anxiety Tibial bowing Preaxial hand polydactyly Abnormal retinal morphology Bilateral cryptorchidism Radial deviation of finger Emotional lability Hamartoma Short femur Lobulated tongue Preaxial foot polydactyly Bulimia Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Diplopia Mesoaxial hand polydactyly Hypoplasia of olfactory tract Aminoaciduria Accessory oral frenulum Hypothalamic hamartoma Mesoaxial polydactyly Hypopigmented skin patches Tongue nodules Hamartoma of tongue Abnormality of vision Abnormal oral frenulum morphology Insomnia Esotropia Trigonocephaly Glossitis Clinodactyly Dilatation Frontal bossing Inflammatory abnormality of the skin Brachydactyly Cryptorchidism Failure to thrive Micropenis Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Cleft lip Feeding difficulties in infancy Preaxial polydactyly Mood changes Toe syndactyly Abnormal urinary color Methylmalonic aciduria Cleft upper lip Episodic ataxia Bruxism Oral cleft Chronic diarrhea Abnormal cerebellum morphology Broad nasal tip Gingivitis Irregular hyperpigmentation Finger clinodactyly Hearing impairment Primary amenorrhea Microcephaly Hearing abnormality Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Truncus arteriosus Pierre-Robin sequence Hypoparathyroidism Interrupted aortic arch Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Graves disease Perimembranous ventricular septal defect Myopathic facies Aplasia of the thymus Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Psychotic episodes Platybasia Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Abnormality of the ear Inflammation of the large intestine Delayed speech and language development Umbilical hernia Hemolytic anemia Dysmetria Anal atresia Pulmonic stenosis Autoimmunity Blepharophimosis Abnormality of the pinna Arthritis Hypothyroidism Chorea Dementia Hypospadias Obesity Thrombocytopenia Recurrent infections Immunodeficiency Atrial septal defect Short neck Ventricular septal defect Bifid uvula Underdeveloped nasal alae Acne Abnormality of the hand Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Schizophrenia Specific learning disability Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Hypocalcemia Low posterior hairline Tetralogy of Fallot Peripheral demyelination Amenorrhea Cutaneous photosensitivity Abnormality of the liver Abnormal blistering of the skin Telecanthus Self-mutilation Protruding tongue Narrow forehead Macroglossia Downturned corners of mouth Abnormality of skin pigmentation Abnormality of the foot Mandibular prognathia Impaired smooth pursuit Prominent forehead Cerebellar hypoplasia Macrocephaly Morning glory anomaly Multiple renal cysts Tented upper lip vermilion Short philtrum Retinal dysplasia Optic nerve coloboma Deeply set eye Occipital myelomeningocele Visual loss Midface retrusion Cerebral atrophy Myopia Depressed nasal bridge Motor delay Triangular-shaped open mouth Hemifacial spasm Central apnea Enlarged fossa interpeduncularis Neonatal breathing dysregulation Dysgenesis of the cerebellar vermis Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Meningoencephalocele Abnormal saccadic eye movements Abnormal pattern of respiration Irritability High forehead Glaucoma Weak cry Hemiparesis Nevus Neoplasm Occipital neuralgia Cervical myelopathy Inspiratory stridor Bulbar signs Opisthotonus Abnormality of retinal pigmentation Stridor Cyanosis Limb muscle weakness Paralysis Dysphagia Feeding difficulties Intermittent hyperventilation Hyperventilation Thickened skin Generalized hirsutism Pneumonia Meningioma Microphthalmia Malar flattening Downslanted palpebral fissures Numerous congenital melanocytic nevi Choroid plexus papilloma Papilloma Astrocytoma Spinal cord compression Cranial nerve paralysis Arachnoid cyst Generalized hyperpigmentation Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Intracranial hemorrhage Increased intracranial pressure Melanoma Venous thrombosis Alopecia Nyctalopia Aciduria Polyuria Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Tubular atrophy Postaxial foot polydactyly Severe vision loss Congenital blindness Nephronophthisis Polydipsia Dilated fourth ventricle Intellectual disability, progressive Aganglionic megacolon Nephropathy Iris coloboma Stage 5 chronic kidney disease Severe global developmental delay Wide mouth Congenital hepatic fibrosis Tubulointerstitial fibrosis Hepatosplenomegaly Photophobia Migraine Cirrhosis Vertigo Unsteady gait Confusion Malabsorption Skin rash Gastroesophageal reflux Aplasia/Hypoplasia of the cerebellar vermis Gait ataxia Hypertonia Diarrhea Dysarthria Hyperreflexia Renal sodium wasting Multiple small medullary renal cysts Renal corticomedullary cysts Autistic behavior Dyspnea Leukemia Horizontal nystagmus Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Narrow face Aplasia cutis congenita Abnormality of the hair Thin skin High myopia Progressive visual loss Retinal detachment Polymicrogyria Retinal degeneration Joint hyperflexibility Absent septum pellucidum Acute lymphoblastic leukemia Renal insufficiency Phthisis bulbi Hepatomegaly Cephalocele Bifid ureter Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Lymphangioma Vitreoretinopathy Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Unilateral primary pulmonary dysgenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Cough, related diseases and genetic alterations Motor delay and Schizophrenia, related diseases and genetic alterations Pain and Hepatic fibrosis, related diseases and genetic alterations Obesity and Lumbar hyperlordosis, related diseases and genetic alterations Cryptorchidism and Limb-girdle muscular dystrophy, related diseases and genetic alterations Micrognathia and Hemolytic anemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more