Ataxia, and Polydactyly

Diseases related with Ataxia and Polydactyly

In the following list you will find some of the most common rare diseases related to Ataxia and Polydactyly 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 JOUBERT SYNDROME 33; JBTS33


Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

Low 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

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Other less relevant matches:

Low match JOUBERT SYNDROME 24; JBTS24


Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Low match MECKEL SYNDROME 13; MKS13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

Low match LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low 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

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

Low match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Top 5 symptoms//phenotypes associated to Ataxia and Polydactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Oculomotor apraxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polymicrogyria Encephalocele Nystagmus Generalized hypotonia Apraxia Cerebellar vermis hypoplasia Cognitive impairment Abnormality of eye movement Macrocephaly Growth delay Seizures Abnormality of the eye

Rare Symptoms - Less than 30% cases


Mutism Absent speech Cerebellar hypoplasia Postaxial hand polydactyly Renal insufficiency Hand polydactyly Occipital encephalocele Cataract Motor delay Gait disturbance Rod-cone dystrophy Epicanthus Strabismus Talipes equinovarus Obesity Renal cyst Retinal dystrophy Abnormality of the kidney Apnea Frontal bossing Dysarthria Elongated superior cerebellar peduncle Enlarged cisterna magna Syndactyly Brachydactyly Cryptorchidism Sensorineural hearing impairment Hyperventilation Short stature Infra-orbital crease Intellectual disability, profound Deep philtrum Brachycephaly Thick vermilion border Hirsutism Feeding difficulties in infancy Deeply set eye EEG abnormality Recurrent infections Downslanted palpebral fissures Wide nasal bridge Myelomeningocele Feeding difficulties Low-set ears Abnormality of cardiovascular system morphology Finger syndactyly Low-set, posteriorly rotated ears Renal hypoplasia Neonatal breathing dysregulation Brainstem dysplasia Episodic tachypnea Meningoencephalocele Abnormal corpus callosum morphology Central apnea Severe postnatal growth retardation Abnormal retinal morphology Nephronophthisis Hypoplasia of the brainstem Horizontal nystagmus Stage 5 chronic kidney disease Hydrometrocolpos Genu valgum Inguinal hernia Hernia Ptosis Scoliosis Abnormality of the antitragus Displacement of the external urethral meatus Congenital hepatic fibrosis Bilateral single transverse palmar creases Type II diabetes mellitus Hypoplasia of penis Iris coloboma Hyperesthesia Distal lower limb amyotrophy Lower limb hypertonia Micrognathia Cranial nerve paralysis Macroglossia Nausea and vomiting Papule Headache Hydrocephalus Abnormal facial shape Polycystic kidney dysplasia Retinopathy Flexion contracture Agenesis of cerebellar vermis Hypertelorism Abnormality of digit Depressed nasal bridge Pachygyria Dysmetria Talipes Hypermetropia Intellectual disability, mild Abnormal cerebellum morphology Tall stature Large for gestational age Hyperreflexia Increased intracranial pressure Ovarian neoplasm Cystic renal dysplasia Lower limb spasticity Distal lower limb muscle weakness Spasticity Ankle clonus Lower limb hyperreflexia Macular dystrophy Urinary urgency Toe walking Impaired vibratory sensation Cone/cone-rod dystrophy Spastic gait Frequent falls Acrokeratosis Renal dysplasia Bradykinesia Rigidity Hypogonadism Intermittent hyperventilation Babinski sign Peripheral neuropathy Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Neoplasm of the thyroid gland Absence of renal corticomedullary differentiation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Hepatosplenomegaly, related diseases and genetic alterations Low-set ears and Abnormality of the kidney, related diseases and genetic alterations Spasticity and Premature birth, related diseases and genetic alterations Cleft palate and Abnormal bleeding, related diseases and genetic alterations Sensorineural hearing impairment and Glaucoma, related diseases and genetic alterations

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