Arthritis, and Joint hyperflexibility

Diseases related with Arthritis and Joint hyperflexibility

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


Top matches:

Medium match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Medium match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Medium match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

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Other less relevant matches:

Medium match PSEUDOACHONDROPLASIA


Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

PSEUDOACHONDROPLASIA Is also known as pseudoachondroplastic dysplasia|pseudoachondroplastic spondyloepiphyseal dysplasia

Related symptoms:

  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Delayed skeletal maturation
  • Arthralgia


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOACHONDROPLASIA

Medium match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

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

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Joint laxity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of epiphysis morphology Intellectual disability Joint dislocation Skeletal dysplasia Soft skin Pain Hernia Atrophic scars Osteoporosis Pes planus Muscle weakness Platyspondyly Joint hypermobility Kyphosis Hyperextensible skin Bruising susceptibility Micromelia Hyperlordosis Genu varum Poor wound healing

Rare Symptoms - Less than 30% cases


Hearing impairment Renal insufficiency Proteinuria Nephropathy Vasculitis Abnormal joint morphology Glomerulopathy Generalized hypotonia Micrognathia Global developmental delay Depressed nasal bridge Fragile skin Talipes equinovarus Abnormality of the dentition Bicornuate uterus Umbilical hernia Unilateral renal agenesis Thin skin Arachnodactyly Hip dislocation Scarring Muscular hypotonia Blue sclerae Congenital hip dislocation Genu valgum Generalized joint laxity Bowing of the long bones Macrocephaly Irregular epiphyses Brachydactyly Abnormality of the elbow Cleft palate Cataract Epiphyseal dysplasia Abnormality of the metaphysis Mitral valve prolapse Hyperextensibility of the finger joints Short nose Delayed skeletal maturation Glucose intolerance Polydipsia Long distal phalanx of finger Pyloric stenosis Chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Hypoplasia of the uterus Generalized osteoporosis Slender distal phalanx of finger Glycosuria Hyperuricemia Horseshoe kidney Proportionate short stature Renal cell carcinoma Exocrine pancreatic insufficiency Caudal interpedicular narrowing Gout Slender proximal phalanx of finger Elevated serum creatinine Maturity-onset diabetes of the young Biliary tract abnormality Acute kidney injury Renal agenesis Nephrolithiasis Diabetes mellitus Mitral stenosis Chronic pain Premature loss of primary teeth Cigarette-paper scars Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Alveolar bone loss around teeth Seizures Ataxia Hypospadias Cerebral cortical atrophy Renal dysplasia Hypothyroidism Mandibular prognathia Jaundice Elevated hepatic transaminase Abnormality of the kidney Abnormality of the liver Infertility Stage 5 chronic kidney disease Hirsutism Hepatic steatosis Long proximal phalanx of finger Renal cyst Pancreatic hypoplasia Renal hypoplasia Ureteropelvic junction obstruction Streaky metaphyseal sclerosis Uterus didelphys Broad nasal tip Atrial septal defect Flat capital femoral epiphysis Intellectual disability, mild Malar flattening Midface retrusion Thoracolumbar kyphosis Enlarged thorax Elevated serum creatine phosphokinase Broad distal phalanx of finger Kyphoscoliosis Talipes Wide nose Carpal bone hypoplasia Nail dysplasia Anteverted nares Short long bone Stridor Metaphyseal irregularity Flared metaphysis Dislocated radial head Thoracic scoliosis Tracheomalacia Irregular vertebral endplates Hypoplasia of the capital femoral epiphysis Small epiphyses Thoracolumbar scoliosis Delayed epiphyseal ossification Upper airway obstruction Short neck Frontal bossing Abnormal calcification of the carpal bones Narrow vertebral interpedicular distance Renal Fanconi syndrome Reduced sperm motility Spondyloepimetaphyseal dysplasia Delayed patellar ossification Renal cortical cysts Narrow femoral neck Multiple glomerular cysts Absent vas deferens Slender metacarpals Epididymal cyst Posterior scalloping of vertebral bodies Abnormality of the patella Large joint dislocations Laryngotracheomalacia Low-set ears Papillary cystadenoma of the epididymis Abnormal bone ossification Laryngeal stenosis Abnormal sacrum morphology Inspiratory stridor Spinal dysraphism Decreased numbers of nephrons Periodontitis Abnormality of exocrine pancreas physiology Abnormality of endocrine pancreas physiology Atretic vas deferens Abnormality of alkaline phosphatase activity Abnormal facial shape Aplasia/Hypoplasia of the pancreas Ambiguous genitalia, female Gingivitis Hematuria Short palm Short foot Short metacarpal Disproportionate short-limb short stature Abnormality of the hip bone Hypoplasia of the odontoid process Intestinal polyposis Hamartomatous polyposis Irregular carpal bones Hypertension Glaucoma Joint stiffness Nephrotic syndrome Pseudoepiphyses of the metacarpals Abnormality of the fingernails Cubitus valgus Hypoplastic toenails Joint swelling Exostoses Patellar dislocation Abnormal toenail morphology Abnormality of the lower limb Abnormality of the upper limb Ridged nail Concave nail Aplasia/Hypoplasia of the patella Aplastic/hypoplastic toenail Gait disturbance Premature osteoarthritis Thickening of the lateral border of the scapula Hypoplasia of the maxilla Abnormal form of the vertebral bodies Short toe Sleep apnea Abnormality of pelvic girdle bone morphology Spinal canal stenosis Abnormality of femur morphology Childhood onset short-limb short stature Sensorineural hearing impairment Myopia Long philtrum Visual loss Proptosis Retinal detachment Abnormal vitreous humor morphology Pseudoepiphyses Abnormality of vertebral epiphysis morphology Delayed eruption of teeth Hypodontia Hip dysplasia Cone-shaped epiphysis Short middle phalanx of finger Metaphyseal dysplasia Short 1st metacarpal Multiple epiphyseal dysplasia Short middle phalanx of the 5th finger Delayed ossification of carpal bones Hip osteoarthritis Hip pain Iliac horns Gastroesophageal reflux Subarachnoid hemorrhage Mitral regurgitation Premature arteriosclerosis Quadricuspid aortic valve Neoplasm Flexion contracture Edema Dilatation Recurrent infections Inguinal hernia Erythema Autoimmunity Carious teeth Microdontia Fine hair Tall stature Arteriosclerosis Gingival overgrowth Hoarse voice Osteolysis Cutis laxa Dermal atrophy Urticaria Hypermelanotic macule Agenesis of permanent teeth Long nose Skin vesicle Striae distensae Premature loss of teeth Gingival bleeding Congenital adrenal hyperplasia Rectal prolapse Recurrent fractures Single transverse palmar crease Wormian bones Delayed gross motor development Hallux valgus Excessive wrinkled skin Subcutaneous hemorrhage Peripheral neuropathy Skeletal muscle atrophy Fatigue Arrhythmia Proximal muscle weakness Myalgia Stroke Sensory neuropathy Bifid uvula Muscle fiber splitting Vesicoureteral reflux Gastrointestinal hemorrhage Ambiguous genitalia Spina bifida Spina bifida occulta Rheumatoid arthritis Psoriasiform dermatitis Adrenal hypoplasia Hiatus hernia Adrenal hyperplasia Proximal amyotrophy Precocious atherosclerosis Increased connective tissue Delayed phalangeal epiphyseal ossification



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Developmental regression, related diseases and genetic alterations

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