Ataxia, and Joint hypermobility

Diseases related with Ataxia and Joint hypermobility

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


Top matches:

Low match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Low match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Low match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Gait ataxia Feeding difficulties Cerebellar atrophy Low-set ears Joint hyperflexibility Scoliosis Spasticity Hyperreflexia High palate Failure to thrive Short stature Abnormal facial shape Dystonia Pain Poor speech Constipation Generalized-onset seizure Mandibular prognathia Long face Stereotypy Hypoplasia of the corpus callosum Intellectual disability, severe Nystagmus Open mouth Delayed myelination Inability to walk Strabismus Chorea Involuntary movements Epicanthus Ventriculomegaly Aggressive behavior

Rare Symptoms - Less than 30% cases


Ophthalmoplegia Unsteady gait Paraparesis Abnormality of the foot Encephalopathy Choreoathetosis Abnormal pyramidal sign Distal muscle weakness Hypermetropia Feeding difficulties in infancy Visual impairment Cerebral atrophy Pes planus Everted lower lip vermilion Muscular hypotonia Cataract Spastic paraparesis Abnormality of the dentition Ptosis Dysphagia Behavioral abnormality Cerebral cortical atrophy Synophrys Gastroesophageal reflux Attention deficit hyperactivity disorder Abnormality of the eye Brachydactyly Macrocephaly Bruxism Hearing impairment Epileptic encephalopathy Atonic seizures Pes cavus Abnormality of eye movement Autistic behavior Thick eyebrow Intellectual disability, moderate Talipes equinovarus Motor delay Hyperactivity Cachexia Narrow face Skeletal muscle atrophy Autism Deeply set eye Hypospadias Diabetes mellitus Hypothyroidism Hepatic steatosis Jaundice Hirsutism Nephropathy Elevated hepatic transaminase Stage 5 chronic kidney disease Infertility Arthritis Abnormality of the liver Abnormality of the kidney Proteinuria Cerebellar hypoplasia Renal insufficiency Fine hair Hand clenching Sparse eyebrow Hyporeflexia Brittle hair Sparse eyelashes Abnormal autonomic nervous system physiology Broad-based gait Narrow forehead Upslanted palpebral fissure Dandy-Walker malformation Dysmetria Talipes Pectus carinatum Joint stiffness Protruding ear Kyphoscoliosis Agenesis of corpus callosum Recurrent respiratory infections Apnea Abnormality of the renal collecting system Incoordination Tented philtrum Diastasis recti Facial hypotonia Obstructive sleep apnea Impaired pain sensation Cortical dysplasia Supernumerary nipple Recurrent upper respiratory tract infections Renal agenesis Tented upper lip vermilion Sleep apnea Plagiocephaly Pointed chin Brain atrophy Neurological speech impairment Short nose Short philtrum Renal cyst Acute kidney injury Renal hypoplasia Neuronal loss in central nervous system Intellectual disability, progressive Truncal ataxia Clonus Postnatal microcephaly Decreased body weight Intellectual disability, profound Urinary incontinence Drooling Sleep disturbance Narrow chest Arthrogryposis multiplex congenita Severe global developmental delay Developmental regression Macrotia Pectus excavatum Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Flexion contracture Slender finger Photosensitive tonic-clonic seizures Conspicuously happy disposition Inappropriate laughter Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Long nose Mutism Dysphasia Bowel incontinence Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Adducted thumb Hyperkinesis Intellectual disability, mild Growth delay Renal dysplasia Hypoplasia of the uterus Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hyperuricemia Glomerulopathy Glycosuria Glucose intolerance Elevated serum creatinine Unilateral renal agenesis Polydipsia Pyloric stenosis Chronic kidney disease Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Gout Bicornuate uterus Abnormality of alkaline phosphatase activity Absent vas deferens Atretic vas deferens Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Multiple glomerular cysts Maturity-onset diabetes of the young Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Kyphosis Midface retrusion Tremor Axonal loss Polyneuropathy Abnormal cerebellum morphology Sensory impairment Abnormality of the hair Fasciculations Sensorimotor neuropathy CNS hypomyelination Abnormality of the hand Steppage gait Sensory axonal neuropathy Brisk reflexes Amyotrophic lateral sclerosis Decreased number of peripheral myelinated nerve fibers Curly hair Facial diplegia Distal sensory impairment Motor axonal neuropathy Bulbar signs Woolly hair Areflexia of lower limbs Morphological abnormality of the pyramidal tract Hyporeflexia of lower limbs Red hair Abnormal hand morphology Curly eyelashes Abnormality of the pituitary gland Pili canaliculi Abnormality of the Achilles tendon Diffuse axonal swelling Blindness Sensory neuropathy Distal amyotrophy EEG abnormality Type E brachydactyly Tapered finger Delayed ability to walk Low frustration tolerance Frontal bossing Short distal phalanx of finger Round face Short metacarpal Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Upper limb asymmetry Moderately short stature Multiple impacted teeth Straight clavicles Falls Proximal muscle weakness Peripheral axonal neuropathy Paraplegia Genu valgum Limb muscle weakness Spastic paraplegia Facial palsy Difficulty walking Aplasia/Hypoplasia of the distal phalanx of the hallux High forehead Babinski sign Areflexia Abnormality of the skeletal system Dysarthria Peripheral neuropathy Myoclonus Abnormality of movement Optic atrophy Language impairment Hypertonia Malar flattening Abnormality of metabolism/homeostasis Neonatal hypotonia Muscular hypotonia of the trunk Irritability Broad forehead Parkinsonism Clumsiness Aganglionic megacolon Tall stature Exotropia External ophthalmoplegia Redundant skin Mask-like facies Gait disturbance Athetosis Myopathic facies Self-mutilation Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Depressed nasal bridge Myopia Vomiting Cognitive impairment Dyskinesia Infantile spasms Tetraplegia Febrile seizures Hypotelorism Spastic tetraplegia Hypsarrhythmia Status epilepticus Tetraparesis Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Focal impaired awareness seizure Self-injurious behavior Global brain atrophy Disproportionate tall stature Profound global developmental delay IgG deficiency Joint laxity Protruding tongue IgA deficiency Cortical gyral simplification Pachygyria Decreased antibody level in blood Highly arched eyebrow Thin upper lip vermilion Oculogyric crisis Clinodactyly Anteverted nares Wide nasal bridge Micrognathia Hypertelorism Inappropriate crying Loss of ability to walk in first decade



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Polydactyly, related diseases and genetic alterations Edema and Recurrent respiratory infections, related diseases and genetic alterations Ptosis and Pes planus, related diseases and genetic alterations Cleft palate and Vertigo, related diseases and genetic alterations Cleft palate and Infertility, related diseases and genetic alterations Cataract and Migraine, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more