Abnormality of the skeletal system, and Apraxia

Diseases related with Abnormality of the skeletal system and Apraxia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Apraxia that can help you solving undiagnosed cases.


Top matches:

Low match JOUBERT SYNDROME 27; JBTS27


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Low match JOUBERT SYNDROME 25; JBTS25


Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour 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
  • Cerebellar hypoplasia
  • Apraxia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 25; JBTS25

Low match JOUBERT SYNDROME 28; JBTS28


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

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Other less relevant matches:

Low match ALZHEIMER DISEASE 2; AD2


A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Low match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX


Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia
  • Intellectual disability, mild


SOURCES: OMIM MESH MENDELIAN

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Low match JOUBERT SYNDROME 31; JBTS31


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 4


Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

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 ATAXIA-OCULOMOTOR APRAXIA 3; AOA3


AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Apraxia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Oculomotor apraxia Common - Between 50% and 80% cases
Molar tooth sign on MRI Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Apraxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Abnormality of eye movement Nystagmus Generalized hypotonia Dementia

Rare Symptoms - Less than 30% cases


Alzheimer disease Areflexia Muscle weakness Delayed speech and language development Seizures Neurofibrillary tangles Cerebellar atrophy Parkinsonism Memory impairment Sensory impairment Mental deterioration Rigidity Cerebral cortical atrophy Tremor Slow saccadic eye movements Frequent falls Polyneuropathy Gliosis Distal sensory impairment Falls Unsteady gait Dysmetria Hyporeflexia Dysarthria Postural instability Neuronal loss in central nervous system Myelomeningocele Hand tremor Substantia nigra gliosis Parkinsonism with favorable response to dopaminergic medication Hyposmia Senile plaques Shuffling gait Lewy bodies Frontotemporal dementia Bradykinesia Resting tremor Aphasia Akinesia Postural tremor Abnormal autonomic nervous system physiology Intention tremor Intermittent hyperventilation Cerebellar vermis hypoplasia Hyperventilation Neurological speech impairment Speech apraxia Muscle fibrillation Drooling Clonus Focal-onset seizure Polymicrogyria Intellectual disability, mild Frontoparietal polymicrogyria Hyperreflexia Hypertension Diabetes mellitus Agnosia Long-tract signs Stroke Perisylvian polymicrogyria Generalized hyperreflexia Myocardial infarction Cerebellar hypoplasia Postaxial polydactyly Abnormality of the eye Polydactyly Syndactyly Impaired vibratory sensation Tetraplegia Dystonia Strabismus Abnormal electroretinogram Peripheral neuropathy Retinopathy Truncal ataxia Hypoplasia of the corpus callosum Ventriculomegaly Retinal dystrophy Motor aphasia



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