Flexion contracture, and Apraxia

Diseases related with Flexion contracture and Apraxia

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


Top matches:

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

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 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

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Other less relevant matches:

Low match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION


PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Low match VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match SPINOCEREBELLAR ATAXIA 2; SCA2


Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low match RETT SYNDROME


Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Apraxia

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
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Flexion contracture and Apraxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Hearing impairment Oculomotor apraxia Muscular hypotonia Nystagmus Cerebellar atrophy Babinski sign Optic atrophy Abnormality of eye movement Microcephaly Motor delay Growth delay Hyperreflexia Retinopathy Absent speech Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Neuronal loss in central nervous system Visual impairment Sensorineural hearing impairment Downturned corners of mouth Developmental stagnation Leukodystrophy Postnatal microcephaly Apnea Dystonia Hypertonia Cerebral atrophy Hypoplasia of the corpus callosum Coarse facial features Contractures of the joints of the lower limbs Hepatosplenomegaly Glycosuria Weight loss Abnormal heart morphology Intellectual disability, severe Intrauterine growth retardation Bilateral ptosis Hyperglycemia Neurodevelopmental delay Prominent metopic ridge Scoliosis Renal tubular dysfunction Ketonuria Autoimmune antibody positivity Abnormality of the upper urinary tract Hypovolemia Dehydration Generalized tonic-clonic seizures Cerebral cortical atrophy Poor head control Hyporeflexia Feeding difficulties Cognitive impairment Dysarthria Gait ataxia Difficulty walking Poor speech Dysmetria Limb ataxia Truncal ataxia Horizontal nystagmus Dysdiadochokinesis Gaze-evoked nystagmus Generalized myoclonic seizures Cerebellar hypoplasia Coma Constipation Delayed myelination Abnormality of the cerebral white matter Muscular hypotonia of the trunk Bradykinesia Spinocerebellar tract degeneration Dilated fourth ventricle Abnormality of extrapyramidal motor function External ophthalmoplegia Dysmetric saccades Progressive neurologic deterioration Broad-based gait Diplopia Fasciculations Olivopontocerebellar atrophy Pontocerebellar atrophy Hypometric saccades Supranuclear ophthalmoplegia Impaired horizontal smooth pursuit Downbeat nystagmus Slow saccadic eye movements Action tremor Palatal myoclonus Urinary bladder sphincter dysfunction Poor coordination Resting tremor Central nervous system degeneration Hypopnea Impaired vibratory sensation Postural tremor Delayed speech and language development Spinal muscular atrophy Epicanthus Drooling High palate Dental crowding Brachydactyly Tetraplegia Depressivity Arrhythmia Clinodactyly of the 5th finger Autism Macrotia EEG abnormality Developmental regression Joint stiffness Abnormality of movement Stereotypy Abnormality of the dentition Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Hemiplegia/hemiparesis Decreased muscle mass Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Behavioral abnormality Respiratory insufficiency Macrocephaly Inability to walk Talipes equinovarus Anteverted nares Long philtrum Clinodactyly Prominent forehead Kyphoscoliosis Camptodactyly Autistic behavior Talipes Thick vermilion border Hepatomegaly Delayed eruption of teeth Macroglossia Short palpebral fissure Hypertrichosis Relative macrocephaly Broad face Broad philtrum Wide nasal base Short stature Muscle weakness Pigmentary retinopathy Neonatal insulin-dependent diabetes mellitus Chorea Aspiration pneumonia Intellectual disability, profound Choreoathetosis Hydrops fetalis Aspiration Leukoencephalopathy Malnutrition Progressive spasticity Ventriculomegaly Pneumonia Reduced visual acuity Severe global developmental delay Focal-onset seizure Febrile seizures Cerebral visual impairment Abnormal autonomic nervous system physiology CNS hypomyelination Focal impaired awareness seizure Feeding difficulties in infancy Edema Abnormality of the periventricular white matter Rotary nystagmus Gait disturbance Neurological speech impairment Unsteady gait Brain atrophy Esotropia Optic disc pallor Incoordination Cerebellar vermis atrophy Functional motor deficit Strabismus Micrognathia Polydactyly Encephalocele Polycystic kidney dysplasia Molar tooth sign on MRI Occipital encephalocele Intention tremor Clonus Multiple joint contractures Central hypotonia Nevus Retinal degeneration Dementia Myoclonus Rigidity Neonatal hypotonia Abnormality of the eye Mental deterioration Pallor Ophthalmoplegia Distal amyotrophy Dysphagia Dyskinesia Sensory neuropathy Neurodegeneration Sleep disturbance Postural instability Abnormal cerebellum morphology Parkinsonism Progressive cerebellar ataxia Rod-cone dystrophy Tremor Limb hypertonia Pancreatic hypoplasia Delayed CNS myelination Neurogenic bladder Cerebral hypomyelination Diffuse white matter abnormalities Temperature instability Oromotor apraxia Peripheral axonal neuropathy Microalbuminuria Reduced pancreatic beta cells Skeletal muscle atrophy Diabetes mellitus Insulin resistance Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Peripheral neuropathy Thin fingernail



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