Peripheral neuropathy, and Joint hyperflexibility

Diseases related with Peripheral neuropathy and Joint hyperflexibility

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


Top matches:

Medium 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

Medium match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Joint hyperflexibility

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia Muscular hypotonia Arthralgia Joint laxity Joint hypermobility Umbilical hernia Osteoporosis Global developmental delay Macrocephaly Generalized hypotonia Short toe Brachydactyly Abnormality of the skeletal system Osteopenia Delayed puberty Short neck Low-set ears Coarse facial features Abnormality of the dentition Dolichocephaly Pectus carinatum Wormian bones Failure to thrive Osteolysis Gait disturbance Downturned corners of mouth Soft skin Hyperextensible skin Ptosis Malar flattening Iris coloboma Hypertelorism Short distal phalanx of finger Myopia Motor delay Syringomyelia Abnormality of the hip bone Platybasia Thick eyebrow Full cheeks Hydrocephalus Hyperlordosis Anteverted nares Skeletal dysplasia Epicanthus Mitral valve prolapse Thin skin Feeding difficulties Microcephaly Thin vermilion border Aortic valve stenosis Micrognathia Cataract Arrhythmia Downslanted palpebral fissures Cryptorchidism Wide nose Abnormal facial shape Ventricular septal defect Coarse hair Scarring Patent ductus arteriosus Pes planus Telecanthus Arnold-Chiari malformation Long philtrum Biconcave vertebral bodies

Rare Symptoms - Less than 30% cases


Thickened calvaria Sleep disturbance Keratoconus Aortic root aneurysm Osteolytic defects of the phalanges of the hand Dural ectasia Abnormal vertebral morphology Feeding difficulties in infancy Basilar impression Prominent forehead Intellectual disability Paresthesia Joint dislocation Apnea Visual impairment Dilatation Obesity Deeply set eye Dental crowding Narrow palpebral fissure Seizures Sparse hair Blepharophimosis Abnormality of cardiovascular system morphology Narrow forehead Depressed nasal bridge Premature rupture of membranes Arterial dissection Sensorineural hearing impairment Atypical scarring of skin Osteoarthritis Patellar dislocation Decreased skull ossification Gastrointestinal hemorrhage Periodontitis Spina bifida Spina bifida occulta Pectus excavatum Atrophic scars Single transverse palmar crease Prominent occiput Open bite Abnormality of the voice Abnormality of the fingernails Generalized hirsutism Low anterior hairline Mitral stenosis Sensory neuropathy Bone pain Hypoplastic 5th lumbar vertebrae Cognitive impairment Ventriculomegaly Hypertrichosis Conductive hearing impairment Kyphoscoliosis Partial absence of toe Absent frontal sinuses Bruising susceptibility Muscle weakness Skeletal muscle atrophy Fatigue Rough bone trabeculation Myalgia Arthritis Arachnodactyly Skin ulcer Multiple renal cysts Hepatomegaly Short metacarpal Short palm Thickened skin Wide nasal bridge Splenomegaly Headache Hypospadias Recurrent respiratory infections Short foot Narrow mouth Cleft palate Dry skin Bowing of the long bones Intestinal malrotation Recurrent fractures Synophrys Thick vermilion border Narrow palate Arachnoid cyst Arnold-Chiari type I malformation Broad nasal tip Prominent metopic ridge Highly arched eyebrow Finger syndactyly Nasal speech Toe syndactyly Atresia of the external auditory canal Slender long bone Small hand Vertebral fusion Attention deficit hyperactivity disorder Sleep apnea Bicuspid aortic valve Microretrognathia Neurofibromas Behavioral abnormality Meningocele Brachycephaly Midface retrusion Hyporeflexia Frontal bossing Clinodactyly of the 5th finger Neoplasm Round face Upslanted palpebral fissure Short nasal bridge Hyperactivity Autism Autistic behavior Thin upper lip vermilion Abnormality of the middle ear ossicles Large sella turcica Sclerosis of skull base Aggressive behavior Tethered cord Low back pain Generalized osteosclerosis Abnormality of the rib cage Craniofacial hyperostosis Back pain Respiratory insufficiency Underdeveloped nasal alae Intracranial hemorrhage Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Aortic dissection Slender finger Disproportionate tall stature Heart murmur Aortic aneurysm Corneal dystrophy Keloids Aortic regurgitation Torticollis Hyperbilirubinemia Increased body weight Recurrent pneumonia Joint contracture of the hand Insulin resistance Tall stature Blue sclerae High myopia Thoracic kyphoscoliosis Palmoplantar cutis laxa Oligohydramnios Abnormality of the kidney Basilar invagination Premature loss of permanent teeth Flank pain Respiratory arrest Delayed cranial suture closure Glomerulonephritis Polycystic kidney dysplasia Dental malocclusion Hematuria Respiratory tract infection Recurrent infections Wrist drop Hypertension Abnormality of the mandible Hypoplasia of the zygomatic bone Abnormality of the skull Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Decreased fetal movement Overgrowth Wide intermamillary distance Short metatarsal Low hanging columella Overweight Tracheomalacia Supernumerary nipple Mild short stature Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Pyloric stenosis Laryngomalacia Broad face Short chin Multicystic kidney dysplasia Bilateral single transverse palmar creases Sparse and thin eyebrow Short phalanx of finger Stereotypy Broad-based gait Sparse scalp hair Congenital diaphragmatic hernia Eczema Renal neoplasm Subvalvular aortic stenosis Esotropia Glaucoma Sepsis Abnormal bleeding Generalized muscle weakness Microcornea Polyneuropathy Retinal detachment Unsteady gait Talipes Retinopathy Neonatal hypotonia Abnormality of metabolism/homeostasis Broad columella Congestive heart failure Myopathy Blindness Edema Respiratory distress Talipes equinovarus Flexion contracture Self-biting Pain insensitivity Abnormal aortic morphology Increased bone mineral density Gynecomastia Narrow face Hyperinsulinemia Limited elbow extension Flared metaphysis Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Scaling skin Metaphyseal widening Epiphyseal dysplasia Genu varum Metaphyseal dysplasia Short long bone Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Type II diabetes mellitus Lumbar hyperlordosis Bilateral sensorineural hearing impairment Disproportionate short stature Abnormal joint morphology Waddling gait Small epiphyses Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Carpal bone hypoplasia Myelopathy Ulnar deviation of the hand Decreased serum estradiol Irregular epiphyses Spinal canal stenosis Decreased serum testosterone level Intestinal polyposis Enlarged joints Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Limb undergrowth Growth hormone deficiency Cervical instability Limb dystonia Ambiguous genitalia Vesicoureteral reflux Bifid uvula Stroke Proximal muscle weakness Upper limb hypertonia Abnormality of the auditory canal Hyperreflexia in upper limbs Impaired proprioception Cortical dysplasia Psoriasiform dermatitis Impaired vibratory sensation Clonus Lower limb spasticity Paraplegia Spastic paraplegia Difficulty walking Dystonia Hypertonia Delayed speech and language development Spasticity Rheumatoid arthritis Unilateral renal agenesis Micromelia Ambiguous genitalia, female Genu valgum Platyspondyly Severe short stature Alopecia Delayed skeletal maturation Intellectual disability, mild Growth delay Quadricuspid aortic valve Premature arteriosclerosis Congenital adrenal hyperplasia Adrenal hypoplasia Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Hiatus hernia Premature osteoarthritis Cervical cord compression Abnormal form of the vertebral bodies Hypoplasia of penis External genital hypoplasia Truncal obesity Abnormality of neuronal migration Hammertoe Prominent supraorbital ridges Scrotal hypoplasia Hypergonadotropic hypogonadism Hyperpigmentation of the skin Heterotopia Amenorrhea Broad foot Decreased testicular size Tapered finger Oral cleft Hypermetropia Abnormality of the pinna Intellectual disability, moderate EEG abnormality Macrotia Hypothyroidism Hypopituitarism Broad neck Hypogonadism Scheuermann-like vertebral changes Low posterior hairline Abnormality of the skin Urinary incontinence High, narrow palate Smooth philtrum Hydronephrosis Proptosis Posteriorly rotated ears High palate Hypoplasia of the prostate Ketoacidosis Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Large earlobe Short 5th finger Micropenis Intellectual disability, severe Flared femoral metaphysis Depressivity Abdominal distention Nausea Vertigo Abnormality of the foot Malabsorption Nausea and vomiting Hip dislocation Gastroesophageal reflux Constipation Vomiting Migraine Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Irregular carpal bones Limitation of joint mobility Microdontia Strabismus Gastrointestinal dysmotility Nystagmus Genital hernia Cystocele Tendon rupture Anorectal anomaly Abnormality of the gingiva Abnormality of the menstrual cycle Ascending tubular aorta aneurysm Venous insufficiency Aplasia/Hypoplasia of the abdominal wall musculature Subcutaneous nodule Abnormality of the wrist Acrocyanosis Gingivitis Striae distensae Keratoconjunctivitis sicca Decreased fertility Elbow dislocation Decreased nerve conduction velocity Abnormal palate morphology Gingival overgrowth Osteolytic defects of the phalanges of the toes



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