Ataxia, and Coloboma

Diseases related with Ataxia and Coloboma

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


Top matches:

Low match JOUBERT SYNDROME 5; JBTS5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Low match JOUBERT SYNDROME 6; JBTS6


Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).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
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

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Other less relevant matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Low 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

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

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

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


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

Top 5 symptoms//phenotypes associated to Ataxia and Coloboma

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

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar vermis hypoplasia Molar tooth sign on MRI Strabismus Muscular hypotonia Oculomotor apraxia Dandy-Walker malformation Ptosis Low-set ears Intellectual disability, severe Highly arched eyebrow Episodic tachypnea Epicanthus Spasticity Hydrocephalus Iris coloboma Nephronophthisis Stage 5 chronic kidney disease Apraxia

Rare Symptoms - Less than 30% cases


Microcephaly Hand polydactyly Abnormality of cardiovascular system morphology Delayed speech and language development Hypertonia Agenesis of corpus callosum Renal insufficiency Hyperactivity Pneumonia Polydactyly Abnormality of the nervous system Encephalocele Microphthalmia Polymicrogyria Open mouth Hypertension Ventriculomegaly Abnormality of neuronal migration Meningocele Growth delay Prominent nasal bridge Neoplasm Anteverted nares Abnormality of eye movement Elongated superior cerebellar peduncle Neonatal breathing dysregulation Thickened superior cerebellar peduncle Breathing dysregulation Motor delay Retinal dystrophy Chorioretinal coloboma Abnormality of the eye Retinal coloboma Enlarged fossa interpeduncularis Central apnea Renal cyst Tetraplegia Lethargy Febrile seizures Autistic behavior Autism Weight loss Spastic tetraplegia Alopecia Encephalopathy Thrombocytopenia Aspiration Leukopenia Cataract Cerebral atrophy Astrocytoma Melanocytic nevus Aplasia/Hypoplasia of the cerebellum Generalized hyperpigmentation Syringomyelia Arachnoid cyst Spinal cord compression Meningioma Papilloma Diarrhea Choroid plexus papilloma Numerous congenital melanocytic nevi Congenital blindness Failure to thrive Hepatomegaly Fever Delayed gross motor development Optic atrophy Hypoventilation Breast carcinoma Oral cleft Multiple renal cysts Morning glory anomaly Scoliosis Tremor Gait disturbance Apnea Feeding difficulties in infancy Long face Tented upper lip vermilion Abnormal form of the vertebral bodies Aganglionic megacolon Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum Biparietal narrowing Foot polydactyly Abnormality of the hypothalamus-pituitary axis Occipital encephalocele Rod-cone dystrophy Encephalitis Abnormal facial shape Aspiration pneumonia Diffuse cerebral atrophy Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Hypertelorism Downslanted palpebral fissures Postaxial polydactyly Malar flattening Absent speech Posteriorly rotated ears High forehead Deeply set eye Irritability Short philtrum Abnormality of the kidney Intracranial hemorrhage Cranial nerve paralysis Increased intracranial pressure Retinal degeneration Hypoplasia of the corpus callosum Hyporeflexia Severe muscular hypotonia Recurrent respiratory infections Hepatic fibrosis Difficulty walking Respiratory tract infection Dysphagia Protruding ear Attention deficit hyperactivity disorder Hypermetropia Poor speech Talipes Anal atresia Bulbous nose Talipes equinovarus Skeletal muscle atrophy Generalized muscle weakness Hypoplasia of penis Sensorineural hearing impairment Brachydactyly Short stature Obesity Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Type II diabetes mellitus Dysarthria Bilateral single transverse palmar creases Hyperechogenic kidneys Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Bile duct proliferation Abnormal retinal morphology Inability to walk Esotropia Melanoma Nevus Aplasia/Hypoplasia of the cerebellar vermis Renal cortical cysts Tapetoretinal degeneration Agenesis of cerebellar vermis Behavioral abnormality EEG abnormality Mental deterioration Hemiparesis Abnormal electroretinogram Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Cryptorchidism Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Delayed ability to walk Truncal ataxia Progressive neurologic deterioration Intellectual disability, moderate Broad-based gait Stereotypy Limb ataxia Poor eye contact Poor coordination Impaired social interactions Happy demeanor Cognitive impairment Renal dysplasia Visual impairment Wide nasal bridge Blindness Kyphoscoliosis Abnormality of the liver Pigmentary retinopathy Impaired renal concentrating ability Abnormal pattern of respiration



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 Wide nasal bridge, related diseases and genetic alterations Low-set ears and Mitral valve prolapse, related diseases and genetic alterations Hypertension and Finger syndactyly, related diseases and genetic alterations Hypertension and Hypertrophic cardiomyopathy, related diseases and genetic alterations Micrognathia and Thick lower lip vermilion, related diseases and genetic alterations

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