Spasticity, and Joint hypermobility

Diseases related with Spasticity and Joint hypermobility

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53


Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

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

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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 SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

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 WEAVER SYNDROME


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

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 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 SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Joint hyperflexibility Delayed speech and language development Absent speech Scoliosis Abnormal facial shape Talipes equinovarus Ataxia Hyperreflexia Hypoplasia of the corpus callosum Cerebellar atrophy Dystonia Failure to thrive Hypertonia Kyphosis Hearing impairment Pes planus Motor delay Feeding difficulties Muscular hypotonia Hypertelorism Visual impairment Ventriculomegaly Difficulty walking Spastic paraplegia Intellectual disability, severe Paraplegia Nystagmus Pectus carinatum Pes cavus

Rare Symptoms - Less than 30% cases


Unsteady gait Cataract Babinski sign Facial hypotonia Generalized-onset seizure Abnormal pyramidal sign Distal muscle weakness Chorea Inability to walk Low-set ears Autistic behavior Amblyopia Myopia Cerebral cortical atrophy Intellectual disability, moderate Aggressive behavior Gait ataxia Hyperactivity Constipation Downslanted palpebral fissures Neonatal hypotonia Abnormality of the dentition Talipes Narrow forehead Spastic tetraplegia Stereotypy Spastic paraparesis Paraparesis Narrow face High palate Tetraplegia Accelerated skeletal maturation Short philtrum Cognitive impairment Gait disturbance Redundant skin Long philtrum Tall stature Strabismus Ptosis Macrocephaly Ventricular septal defect Atrial septal defect Choreoathetosis Agenesis of corpus callosum Posteriorly rotated ears Joint stiffness Wide nasal bridge Curly hair Broad forehead Feeding difficulties in infancy Fine hair Mandibular prognathia Cryptorchidism Diabetes mellitus Large hands Broad thumb Inguinal hernia Abnormality of cardiovascular system morphology Hypothyroidism Jaundice Elevated hepatic transaminase Hoarse voice Arthritis Proteinuria Micrognathia Macrotia Abnormality of the kidney Abnormality of the liver Underfolded superior helices Poor hand-eye coordination Abnormality of creatine metabolism Duodenal ulcer Infertility Abnormality of the fingernails Stage 5 chronic kidney disease Sandal gap Hirsutism Hypoplastic toenails Hand clenching Hypospadias Retrognathia Depressed nasal bridge Round face Optic atrophy Tremor Finger syndactyly Camptodactyly of finger Abnormally low-pitched voice Low-set, posteriorly rotated ears Deep-set nails Thin nail Short nose Hyporeflexia Cerebellar hypoplasia Renal insufficiency Kyphoscoliosis Broad foot Protruding ear Abnormality of the metaphysis Dysmetria Dandy-Walker malformation Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Hypoplasia of penis Deep philtrum Glycosuria Nephropathy Platyspondyly Low posterior hairline Lumbar hyperlordosis Mitral valve prolapse Webbed neck Retinal detachment Thin vermilion border Congenital cataract Abnormal cardiac septum morphology Hyperextensible skin Hyperlordosis Osteopenia Osteoporosis Visual loss Depressivity Microphthalmia Short neck Muscle weakness Decreased body weight Increased susceptibility to fractures Abnormality of alkaline phosphatase activity Disproportionate short-trunk short stature Dysplastic aortic valve Aplasia/Hypoplasia of the lens Abnormality of the intervertebral disk Long toe Unilateral cryptorchidism Shield chest Thickened helices Vertebral compression fractures Hemiplegia Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Thoracic kyphosis Iris hypopigmentation Subcapsular cataract Long fingers Preauricular pit Sensorineural hearing impairment Atretic vas deferens Hepatic steatosis Polydipsia Acute kidney injury Hyperuricemia Glomerulopathy Impaired social interactions Hypoplasia of the uterus Glucose intolerance Unilateral renal agenesis Pyloric stenosis Renal cell carcinoma Chronic kidney disease Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Proportionate short stature Exocrine pancreatic insufficiency Abnormality of endocrine pancreas physiology Renal cortical cysts 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 Reduced sperm motility Gout Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Urethral stenosis Genu recurvatum Ileus Fasciculations Brisk reflexes Sensory axonal neuropathy Steppage gait Abnormality of the hand CNS hypomyelination Sensorimotor neuropathy Abnormality of the hair Decreased number of peripheral myelinated nerve fibers Sensory impairment Abnormal cerebellum morphology Polyneuropathy Sensory neuropathy Distal sensory impairment Distal amyotrophy Amyotrophic lateral sclerosis Axonal loss Peripheral axonal neuropathy Curly eyelashes Blindness Pain Diffuse axonal swelling Abnormality of the Achilles tendon Pili canaliculi Abnormality of the pituitary gland Abnormal hand morphology Facial diplegia Red hair Hyporeflexia of lower limbs Morphological abnormality of the pyramidal tract Areflexia of lower limbs Woolly hair Bulbar signs Motor axonal neuropathy Falls Genu valgum Encephalopathy Abnormality of the auditory canal Upslanted palpebral fissure Abnormal heart morphology Clinodactyly Epicanthus Growth delay Upper limb hypertonia Hyperreflexia in upper limbs Thin upper lip vermilion Impaired proprioception Limb dystonia Cortical dysplasia Impaired vibratory sensation Clonus Lower limb spasticity Hypertrichosis Narrow mouth Telecanthus Abnormality of the foot Skeletal muscle atrophy Limb muscle weakness Facial palsy Proximal muscle weakness High forehead Areflexia Abnormality of the skeletal system Dysarthria Camptodactyly Peripheral neuropathy Aplasia of the inferior half of the cerebellar vermis Small cerebral cortex Periventricular leukomalacia Mild microcephaly Delayed ability to walk Abnormality of digit Cerebral atrophy Myoclonus Speech apraxia Prominent antihelix Muscular hypotonia of the trunk Abnormality of metabolism/homeostasis Midface retrusion Malar flattening Behavioral abnormality Vomiting Shyness Attention deficit hyperactivity disorder Everted upper lip vermilion Acetabular dysplasia Spastic dysarthria Generalized joint laxity Overweight Abnormality of the periventricular white matter Irritability Hypermetropia Long nose Cachexia Chronic constipation Self-mutilation Myopathic facies Athetosis Mask-like facies Language impairment External ophthalmoplegia Ophthalmoplegia Exotropia Aganglionic megacolon Clumsiness Open mouth Delayed myelination Parkinsonism Long face Progressive spastic paraplegia Decreased muscle mass Autism Epileptic encephalopathy Cerebral visual impairment Involuntary movements Tetraparesis Status epilepticus Hypsarrhythmia Hypotelorism Febrile seizures Spastic tetraparesis Dyskinesia Thick eyebrow Abnormality of movement Abnormality of eye movement Abnormality of the eye Deeply set eye EEG abnormality Progressive microcephaly Focal impaired awareness seizure Drooling Flexion contracture Pointed chin Waddling gait Bulbous nose Poor speech Wide mouth Coarse facial features Inappropriate crying Self-injurious behavior Oculogyric crisis Profound global developmental delay Bruxism Atonic seizures Infantile spasms Disproportionate tall stature Global brain atrophy Left hemiplegia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Webbed neck, related diseases and genetic alterations Ventricular septal defect and Telangiectasia, related diseases and genetic alterations Lymphoma and Mental deterioration, related diseases and genetic alterations High palate and Nephrotic syndrome, related diseases and genetic alterations

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