Ataxia, and Joint hyperflexibility

Diseases related with Ataxia and Joint hyperflexibility

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

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

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

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Gait disturbance Short stature Gait ataxia Nystagmus Macrocephaly Narrow face Depressed nasal bridge Intellectual disability, moderate Ventriculomegaly Absent speech Behavioral abnormality Intellectual disability, severe Delayed speech and language development Spasticity Failure to thrive Mandibular prognathia Long face Microcephaly Joint hypermobility Aggressive behavior Micrognathia Stereotypy Hearing impairment Patent ductus arteriosus Hypospadias Epicanthus Autism Downslanted palpebral fissures Frontal bossing Encephalopathy Intellectual disability, mild Cerebellar atrophy Brachydactyly Skeletal muscle atrophy Strabismus Growth delay Hyperactivity Cachexia Cognitive impairment Clinodactyly of the 5th finger Muscular hypotonia Hypoplasia of the corpus callosum Prominent nose

Rare Symptoms - Less than 30% cases


Myopia Coarse facial features Visual impairment Abnormality of the pinna Short philtrum Microphthalmia Cerebral atrophy Aplasia/Hypoplasia of the corpus callosum Respiratory tract infection Visual loss Pes planus Joint laxity Mental deterioration Congenital cataract Mutism Macrotia Clonus Intellectual disability, profound Bulbous nose Gastroesophageal reflux Congestive heart failure Hypertelorism Pectus excavatum Sandal gap Facial asymmetry Dysphagia Hyperreflexia Pain Anorexia Renal cortical cysts Acute kidney injury Polymicrogyria Pachygyria Progressive visual loss Ragged-red muscle fibers Muscle cramps Aciduria Glycosuria Memory impairment Bilateral sensorineural hearing impairment Exercise intolerance Myoglobinuria Lactic acidosis Glutaric aciduria Inguinal hernia Relative macrocephaly Low-set ears Depressivity High palate Thick lower lip vermilion Metabolic acidosis Hypertrophic cardiomyopathy Telecanthus Optic atrophy Cortical dysplasia Lens luxation Scoliosis Sensorineural hearing impairment Muscle weakness Dysarthria Fatigue Acidosis Respiratory distress Dental crowding Cardiomyopathy High forehead Elevated serum creatine phosphokinase Hypogonadism Tremor Glomerulopathy Respiratory failure Renal dysplasia Muscular hypotonia of the trunk Renal insufficiency Midface retrusion Pyloric stenosis Elevated hepatic transaminase Pes cavus Jaundice Horseshoe kidney Moderately short stature Cerebral cortical atrophy Ophthalmoplegia Feeding difficulties in infancy Renal agenesis Renal cyst Hepatic steatosis Nephropathy Attention deficit hyperactivity disorder Abnormality of the dentition Hypertonia Vomiting Proteinuria Unilateral renal agenesis Ptosis Open mouth Abnormality of the liver Dystonia Feeding difficulties Round face Short neck Toe syndactyly Synophrys Intrauterine growth retardation Short metacarpal Neurological speech impairment Kyphosis Immunodeficiency Obesity Hyperhidrosis Camptodactyly of finger Blepharophimosis Wide mouth Short distal phalanx of finger Micropenis EEG abnormality Hypoplasia of the uterus Delayed puberty Cubitus valgus Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical gyral simplification Open bite Large hands Acanthosis nigricans Short palm Narrow palpebral fissure Gynecomastia Short thumb Broad-based gait Intention tremor Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Macroglossia Short foot Small hand Cryptorchidism Neurogenic bladder Posterior staphyloma Atrial septal defect Coloboma Pseudohypoparathyroidism Hydronephrosis Ectopic calcification Upper limb asymmetry Agenesis of corpus callosum Abnormal heart morphology Dilatation Long philtrum Talipes equinovarus Hip dislocation Ventricular septal defect Abnormality of the skeletal system Multiple impacted teeth Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Bipolar affective disorder Nasal speech Type E brachydactyly Corneal opacity Dolichocephaly Short 2nd toe Aortic aneurysm Scleral staphyloma Lop ear Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Distal lower limb amyotrophy Congenital nystagmus Bowing of the legs Chorioretinal coloboma Short metatarsal Iris coloboma Genu varum Abnormal palate morphology Aortic regurgitation Short chin Short toe Short clavicles Convex nasal ridge Esotropia Microcornea Highly arched eyebrow Down-sloping shoulders Hepatomegaly Abnormal hair pattern Excessive daytime somnolence Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Ketonuria Respiratory arrest Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Drowsiness Fatigable weakness Rhabdomyolysis Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Acute pancreatitis Generalized aminoaciduria Polycystic kidney dysplasia Ketotic hypoglycemia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Increased muscle lipid content Oliguria Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Back pain Slurred speech Tics Headache Hyperlordosis Myalgia Proximal muscle weakness Hypoglycemia Difficulty walking Arthralgia Dyspnea Weight loss Areflexia Arrhythmia Diarrhea Lethargy Myopathy Edema Respiratory insufficiency Fever Aortic valve stenosis Abnormality of toe Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Dilated cardiomyopathy Abnormality of the cerebral white matter Easy fatigability Heterotopia Poor head control Hyperammonemia Spastic tetraparesis Pancreatitis Scapular winging Type I diabetes mellitus Cardiac arrest Leukodystrophy Decreased liver function Wide anterior fontanel Left ventricular hypertrophy Abnormality of the genital system Nausea and vomiting Tetraparesis Cardiomegaly Waddling gait Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Coma Pulmonary hypoplasia Nausea Limb muscle weakness Aspiration Pectus carinatum Straight clavicles Decreased muscle mass Conspicuously happy disposition Inappropriate laughter Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Long nose Dysphasia Bowel incontinence Aplasia/Hypoplasia of the cerebellum Loss of ability to walk in first decade Abnormality of the thorax Adducted thumb Hyperkinesis Infantile muscular hypotonia Drooling Abnormality of the kidney Intellectual disability, progressive Truncal ataxia Postnatal microcephaly Decreased body weight Photosensitive tonic-clonic seizures Arthritis Infertility Abnormality of creatine metabolism Horizontal nystagmus Abnormality of the hair Impaired social interactions Encephalocele Thin skin High myopia Urethral stenosis Vesicoureteral reflux Retinal detachment Duodenal ulcer Retinal degeneration Hypothyroidism Poor hand-eye coordination Leukemia Nyctalopia Underfolded superior helices Retrognathia Glaucoma Alopecia Diabetes mellitus Blindness Hydrocephalus Involuntary movements Generalized-onset seizure Corneal dystrophy Uterus didelphys Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Multiple glomerular cysts Polydipsia Reduced sperm motility Renal Fanconi syndrome Pancreatic hypoplasia Atretic vas deferens Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Gout Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hyperuricemia Abnormality of endocrine pancreas physiology Abnormality of alkaline phosphatase activity Neuronal loss in central nervous system Severe global developmental delay Epileptic encephalopathy Urinary incontinence Sleep disturbance Thick eyebrow Unsteady gait Poor speech Abnormality of eye movement Abnormality of the foot Narrow chest Arthrogryposis multiplex congenita Developmental regression Chronic kidney disease Abnormality of the eye Deeply set eye Stage 5 chronic kidney disease Hirsutism Renal hypoplasia Nephrolithiasis Paraparesis Multicystic kidney dysplasia Flexion contracture Spastic paraparesis Macular degeneration Ectopia lentis Aplasia/Hypoplasia of the distal phalanx of the hallux Glomerulonephritis Exercise-induced myoglobinuria Recurrent myoglobinuria Irritability Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Autistic behavior Generalized amyotrophy Focal segmental glomerulosclerosis Ophthalmoparesis Glomerulosclerosis Crescentic glomerulonephritis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Broad forehead Hypergonadotropic hypogonadism Progressive muscle weakness Progressive neurologic deterioration Status epilepticus Pancytopenia Apraxia Rapid neurologic deterioration Cleft palate Hypermetropia Glucose intolerance Pulmonary arterial hypertension Psychosis Single transverse palmar crease Tapered finger Everted lower lip vermilion Abnormality of skin pigmentation Oral cleft Pulmonic stenosis Small for gestational age Prominent nasal bridge Cleft lip Neonatal hypotonia Anxiety Thin upper lip vermilion Posteriorly rotated ears Malar flattening Clinodactyly Abnormality of metabolism/homeostasis Hernia Constipation Short nose Hypertension Nephrotic syndrome Specific learning disability Dextrocardia Aplasia cutis congenita of scalp Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Speech apraxia Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Bifid ureter Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Ileus Occipital meningocele Cephalocele Parkinsonism Tall stature Progressive cerebellar ataxia Chorea Postural instability Delayed myelination Hepatic failure Stroke Abnormal pyramidal sign Choreoathetosis Clumsiness Aganglionic megacolon Myoclonus Chronic constipation Rod-cone dystrophy Exotropia External ophthalmoplegia Redundant skin Language impairment Mask-like facies Athetosis Anemia Myopathic facies Self-mutilation Abnormality of blood glucose concentration



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