Tremor, and Joint hypermobility

Diseases related with Tremor and Joint hypermobility

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


Top matches:

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 MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

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Other less relevant matches:

Low match ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME


Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low 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

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

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

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

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures Muscular hypotonia High palate Difficulty walking Hypertelorism Hypoplasia of the corpus callosum Hearing impairment Low-set ears Failure to thrive Delayed speech and language development Kyphosis Hyporeflexia Strabismus Anxiety Abnormal facial shape Gait ataxia Ventriculomegaly Mandibular prognathia Pectus excavatum Absent speech Short stature Dystonia Micrognathia Ataxia Long face Depressivity Motor delay High forehead Paresthesia Small hand Intention tremor Cryptorchidism Downslanted palpebral fissures Anteverted nares Short neck Macrotia Postnatal growth retardation Synophrys Inguinal hernia Oral-pharyngeal dysphagia Intrauterine growth retardation Osteoporosis Protruding ear Myopia Cerebellar hypoplasia Talipes equinovarus Dysmetria Cataract Depressed nasal bridge Spasticity Broad-based gait

Rare Symptoms - Less than 30% cases


Scarring Sparse hair Dementia Weight loss Cerebral cortical atrophy Bulbous nose Abnormality of eye movement Abnormality of the liver Attention deficit hyperactivity disorder Arthritis Cerebellar atrophy Thrombocytopenia Proteinuria Respiratory insufficiency Feeding difficulties Elevated hepatic transaminase Constipation Short nose Hyperhidrosis Agenesis of corpus callosum Cerebellar vermis hypoplasia Vomiting Memory impairment Decreased fetal movement Hepatomegaly Peripheral neuropathy Ptosis Hyperreflexia Short foot Neurodevelopmental delay Splenomegaly Polyneuropathy Abnormal hair pattern Corneal opacity Abnormality of skin pigmentation Unsteady gait Involuntary movements Hip dislocation Optic atrophy Dysphagia Decreased liver function Sacral dimple Anemia Prominent forehead Kyphoscoliosis Intellectual disability, severe Pigmentary retinopathy Atrial septal defect Brachydactyly Talipes Epicanthus Distal amyotrophy Skeletal muscle atrophy Retinopathy Macrocephaly Inability to walk Joint laxity Midface retrusion Pes cavus Delayed skeletal maturation Aggressive behavior Narrow forehead Fine hair Pes planus Choreoathetosis Muscle weakness Sparse eyelashes Visual impairment Pectus carinatum EEG abnormality Hernia Wide mouth Posteriorly rotated ears Schizophrenia Blepharophimosis Psychosis Restlessness Patent ductus arteriosus Nystagmus Brachycephaly Hemolytic anemia Distal muscle weakness Hepatic steatosis Confusion Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Decreased adenosylcobalamin Hemolytic-uremic syndrome Slurred speech Atherosclerosis Abnormality of retinal pigmentation Hemiplegia Right ventricular failure Abnormality of macular pigmentation Delirium Urogenital fistula Hyperhomocystinemia Ectopia lentis Apathy Disproportionate tall stature Thromboembolism Megaloblastic anemia Decreased methylcobalamin Cor pulmonale Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Excessive wrinkled skin Anorexia Esophageal varix Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Chondrocalcinosis Mixed demyelinating and axonal polyneuropathy Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria High nonceruloplasmin-bound serum copper Kayser-Fleischer ring Recurrent urinary tract infections Lower limb muscle weakness Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Aciduria Urinary incontinence Neutropenia Metabolic acidosis Hematuria Nephropathy Retinal degeneration Smooth philtrum Malabsorption Atypical or prolonged hepatitis Congenital cataract Lethargy Vitamin B12 deficiency Feeding difficulties in infancy Mental deterioration Acidosis Reduced visual acuity Renal insufficiency Congestive heart failure Hydrocephalus Hypertension Decreased methionine synthase activity Flat face Cystathioninuria Umbilical hernia Wide anterior fontanel Large fontanelles Polar cataract Thin skin Blue sclerae Hypoargininemia Hypotelorism Underdeveloped nasal alae Triangular face Thin vermilion border Narrow mouth Congenital hip dislocation Respiratory failure Severe short stature Visual loss Malar flattening Ventricular septal defect Abnormality of the skeletal system Frontal bossing Flexion contracture Microdontia of primary teeth Bifid ribs Exodeviation Elbow flexion contracture Wormian bones Bull's eye maculopathy Prematurely aged appearance Calcaneovalgus deformity Dermal translucency Overlapping fingers Premature skin wrinkling Progeroid facial appearance Wide cranial sutures Corneal arcus Severe failure to thrive Severe intrauterine growth retardation Subcapsular cataract Thin ribs Opacification of the corneal stroma Reduced subcutaneous adipose tissue Congenital glaucoma Multiple joint contractures Mild short stature Athetosis Redundant skin Poor suck Hyperextensible skin Adducted thumb Hyperammonemia Cutis laxa Poliosis Hyperextensibility of the finger joints Hypomethioninemia Low-set, posteriorly rotated ears Hypoplasia of the maxilla Highly arched eyebrow Wide nose Thick eyebrow Narrow nasal ridge Oral cleft Cleft upper lip Narrow chest Craniosynostosis Abnormality of the kidney Cleft lip Growth hormone deficiency Hydronephrosis Neonatal hypotonia Polyhydramnios Hypothyroidism Upslanted palpebral fissure Wide nasal bridge Cleft palate Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Vesicoureteral reflux Wide intermamillary distance Rib fusion Overlapping toe Broad philtrum Conical tooth Rectovaginal fistula Beaking of vertebral bodies Self-mutilation Sprengel anomaly Shawl scrotum Vertebral fusion Vertebral segmentation defect Supernumerary nipple Large for gestational age Renal agenesis Coarse hair Hemivertebrae Low anterior hairline Sparse and thin eyebrow Gingival overgrowth Global brain atrophy Tall stature Long eyelashes Low posterior hairline Abnormality of the ribs Postaxial hand polydactyly Pathologic fracture Scaphocephaly Personality changes Prominent coccyx Encephalopathy Respiratory distress Fever Pain Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Caesarian section Myoclonus Sleep-wake cycle disturbance Short digit Toenail dysplasia Nasolacrimal duct obstruction Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Recurrent respiratory infections Apnea Prominent supraorbital ridges Coxa valga Alacrima Pain insensitivity Action tremor Blepharitis Axonal loss Muscle fibrillation Anhidrosis Hyperkinesis Sleep apnea Cone/cone-rod dystrophy Aspiration Abnormality of the eye Postnatal microcephaly Decreased body weight Apraxia Increased serum lactate Delayed myelination Gliosis Recurrent fractures Single transverse palmar crease Abnormality of movement Respiratory tract infection Chronic otitis media Delayed gross motor development Decreased sensory nerve conduction velocity Myalgia Truncal ataxia Limb ataxia Frequent falls Primary amenorrhea Amenorrhea Sensory impairment Distal sensory impairment Falls Pallor Elevated serum creatine phosphokinase Gowers sign Intellectual disability, mild Myopathy Hand clenching Sparse eyebrow Brittle hair Abnormal autonomic nervous system physiology Generalized-onset seizure Dandy-Walker malformation Joint stiffness Abnormality of the dentition Dysdiadochokinesis Increased variability in muscle fiber diameter Reduced tendon reflexes Osteopenia Microretrognathia Pointed chin Eczema Hip dysplasia Broad nasal tip High, narrow palate Hirsutism Autistic behavior Deeply set eye Thin upper lip vermilion Gastroesophageal reflux Myopathic facies Proptosis Long philtrum Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Prolactin excess Mitochondrial myopathy Poor coordination Hyperthyroidism Multiple lipomas Elevated alpha-fetoprotein Corneal ulceration Abnormality of mitochondrial metabolism Cerebral atrophy Infertility Nausea and vomiting Abnormality of the cerebral white matter Pruritus Abnormality of the nervous system Rigidity Hepatosplenomegaly Jaundice Arthralgia Edema Peripheral axonal neuropathy Fatigue Dysarthria Neoplasm Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Poor speech Nausea Distal lower limb amyotrophy Increased body weight Hypercalciuria Back pain Abnormality of the hand Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Aminoaciduria Spontaneous abortion Muscle stiffness Bone pain Cirrhosis Nephrolithiasis Clumsiness Cholestasis Osteoarthritis Progressive neurologic deterioration Hepatitis Ascites Coma Bruising susceptibility Hepatic failure Tics Down-sloping shoulders Perivascular spaces Clinodactyly of the 5th finger Toe syndactyly Neurological speech impairment Short philtrum Camptodactyly of finger Abnormality of the pinna Intellectual disability, moderate Coarse facial features Micropenis Hyperactivity Hypogonadism Hypospadias Joint hyperflexibility Obesity Immunodeficiency Behavioral abnormality Hypertonia Gait disturbance Decreased CSF/serum albumin ratio Decreased CSF albumin Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Delayed puberty Polymicrogyria Striae distensae Relative macrocephaly Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Open bite Large hands Cubitus valgus Cachexia Acanthosis nigricans Short palm Sandal gap Narrow palpebral fissure Gynecomastia Short thumb Thick lower lip vermilion Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Prominent nose Macroglossia Prominent superficial blood vessels



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