Ataxia, and Hypertelorism

Diseases related with Ataxia and Hypertelorism

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


Top matches:

Medium match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Medium match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

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Other less relevant matches:

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match PEROXISOME BIOGENESIS DISORDER 4B; PBD4B


Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

Medium match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

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

Top 5 symptoms//phenotypes associated to Ataxia and Hypertelorism

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Nystagmus Microcephaly Cerebellar hypoplasia Apraxia Macrocephaly Cerebellar atrophy Gait ataxia Dysmetria Gait disturbance Mandibular prognathia Frontal bossing Hearing impairment Visual impairment Short stature Micrognathia Scoliosis Abnormal cerebellum morphology Oculomotor apraxia

Rare Symptoms - Less than 30% cases


Hypertonia Strabismus Syndactyly Failure to thrive Absent speech Narrow forehead Inability to walk Short nose High palate Feeding difficulties Esotropia Anteverted nares Optic atrophy Hyperreflexia Behavioral abnormality Upslanted palpebral fissure Delayed speech and language development Stage 5 chronic kidney disease Molar tooth sign on MRI Depressed nasal bridge Dysarthria Cerebral atrophy Deeply set eye Proteinuria Arachnodactyly Epicanthus Nephrotic syndrome Focal segmental glomerulosclerosis Polymicrogyria Glomerulosclerosis Intrauterine growth retardation Adrenal insufficiency Apnea Thin upper lip vermilion Cerebellar vermis hypoplasia Hypoplasia of the corpus callosum Respiratory distress Downslanted palpebral fissures Low-set ears Growth delay Ureterocele Decreased nerve conduction velocity Postaxial polydactyly Intellectual disability, mild Decreased liver function Single transverse palmar crease Retinal dystrophy Broad forehead Neonatal hypotonia Rod-cone dystrophy Polydactyly Hepatomegaly Peripheral neuropathy Sensorineural hearing impairment Minimal change glomerulonephritis Abnormality of the cerebral white matter Tracheomalacia Delayed myelination Developmental regression Self-injurious behavior Stereotypy Postnatal microcephaly Thick lower lip vermilion Short palpebral fissure Hypotelorism Underdeveloped nasal alae Thick vermilion border Pectus carinatum Short philtrum Attention deficit hyperactivity disorder Wide mouth Autistic behavior Hyperlordosis Joint laxity Sleep apnea Aggressive behavior Anxiety Pes planus Gastroesophageal reflux Autism Hyperactivity Constipation Uplifted earlobe Retrocerebellar cyst Snoring Obstructive sleep apnea Ectopic posterior pituitary Cortical gyral simplification Laryngomalacia Inferior vermis hypoplasia Tachypnea Central hypothyroidism Cerebral visual impairment Hyperostosis Increased intracranial pressure Tetraparesis Small nail Overgrowth Nail dysplasia Dental malocclusion Facial asymmetry Facial palsy Midface retrusion Abnormality of the skeletal system Brisk reflexes Infantile muscular hypotonia Status epilepticus Cutaneous finger syndactyly Generalized-onset seizure Hip dysplasia Unsteady gait Poor speech EEG abnormality Osteopenia Brain atrophy Osteoporosis Prominent forehead Peripheral demyelination Pachygyria Tremor Myopia Wide nasal bridge Short finger Sclerotic vertebral endplates Panhypopituitarism Thick hair Bilateral ptosis Recurrent upper respiratory tract infections Cone/cone-rod dystrophy Cognitive impairment Growth hormone deficiency Cleft lip Hypothyroidism Micropenis Recurrent infections Ptosis Cleft palate Tall stature Anteverted ears Mild microcephaly Ventriculomegaly Abnormality of finger Poor head control Narrow palpebral fissure Low posterior hairline Epileptic encephalopathy Hirsutism Hypermetropia Sparse hair Muscular hypotonia of the trunk Large for gestational age Clinodactyly Encephalopathy Elongated superior cerebellar peduncle Dystonia Obsessive-compulsive behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Psoriasiform dermatitis, related diseases and genetic alterations Flexion contracture and Downturned corners of mouth, related diseases and genetic alterations Cryptorchidism and Protruding ear, related diseases and genetic alterations Breast carcinoma and Nephrotic syndrome, related diseases and genetic alterations Hypertension and Sparse scalp hair, related diseases and genetic alterations Scoliosis and Conductive hearing impairment, related diseases and genetic alterations

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