Arthritis, and Hip dysplasia

Diseases related with Arthritis and Hip dysplasia

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


Top matches:

Medium match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Medium match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5


Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 Is also known as multiple epiphyseal dysplasia, matn3-related|polyepiphyseal dysplasia type 5|microepiphyseal dysplasia, bilateral hereditary|edm5|bhmed|med5|bilateral hereditary micro-epiphyseal dysplasia

Related symptoms:

  • Short stature
  • Pain
  • Gait disturbance
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

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Other less relevant matches:

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

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Medium match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Arthritis and Hip dysplasia

Symptoms // Phenotype % cases
Pain Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Irregular epiphyses Joint stiffness Gait disturbance Scoliosis Multiple epiphyseal dysplasia Skeletal dysplasia Genu valgum Abnormality of epiphysis morphology Small epiphyses Spondyloepiphyseal dysplasia Genu varum Waddling gait Limitation of joint mobility Mild short stature Abnormality of the skeletal system Premature osteoarthritis Micromelia Muscular hypotonia Flexion contracture Brachydactyly Depressed nasal bridge Talipes equinovarus Intellectual disability Broad femoral neck Hip pain Severe short stature Kyphosis Kyphoscoliosis Hip osteoarthritis

Rare Symptoms - Less than 30% cases


Short phalanx of finger Short metacarpal Dysostosis multiplex Hearing impairment Growth delay Flattened epiphysis Osteopenia Hypertelorism Short palm Recurrent respiratory infections Myopathy Abnormality of the foot Frontal bossing Bowing of the long bones Muscle weakness Macrocephaly Joint dislocation Mandibular prognathia Short long bone Retinal degeneration Corneal opacity Respiratory tract infection Disproportionate short-limb short stature Generalized hypotonia Cleft palate Umbilical hernia Coarse facial features Short finger Global developmental delay Hernia Short middle phalanx of finger Prominent forehead Pseudoepiphyses Midface retrusion Irregular vertebral endplates Delayed ossification of carpal bones Knee osteoarthritis Arthropathy Pneumonia Metaphyseal irregularity Short femoral neck Hypoplasia of the capital femoral epiphysis Arthralgia of the hip Coxa vara Knee pain Avascular necrosis of the capital femoral epiphysis Delayed skeletal maturation Joint hyperflexibility Flat capital femoral epiphysis Shallow acetabular fossae Hypodontia Macrotia Hepatosplenomegaly Neurological speech impairment Anxiety Mental deterioration Gait ataxia Babinski sign Pectus carinatum Inguinal hernia Broad forehead Cone-shaped epiphysis Abnormality of the cerebral white matter Hypermetropia Dysmetria Confusion Thick eyebrow Highly arched eyebrow Neurodegeneration Macroglossia Progressive cerebellar ataxia Gliosis Delayed myelination Dental malocclusion Decreased antibody level in blood Otitis media Peripheral demyelination Areflexia Malar flattening Depressivity Hyperreflexia Costal cartilage calcification Cystic lesions of the pinnae Hypertrophic auricular cartilage Ataxia Nystagmus Strabismus Sensorineural hearing impairment Cataract Spasticity Cognitive impairment Delayed speech and language development Motor delay Epicanthus Hepatomegaly Dysarthria Recurrent infections Abnormality of the dentition Cerebral atrophy Immunodeficiency Type II diabetes mellitus Splenomegaly Intellectual disability, mild Behavioral abnormality Cerebellar atrophy Myopia Intellectual disability, severe Hydrocephalus Short neck Ventriculomegaly Optic atrophy Skeletal muscle atrophy Optic disc pallor Gingival overgrowth Pancytopenia Cerebral dysmyelination Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Synovitis Abnormal echocardiogram Thoracolumbar kyphosis Vacuolated lymphocytes Cranial hyperostosis Abnormality of the gingiva Long ear Retinal thinning Synostosis of joints Hydrocele testis Oligosacchariduria Spondylolysis Increased vertebral height Increased hepatic glycogen content Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Reduced ejection fraction Impaired smooth pursuit Psychosis Prominent supraorbital ridges Depressed nasal ridge Hypertrichosis Progressive neurologic deterioration Tall stature Amblyopia Glabellar hemangioma Limb ataxia Hallucinations Spastic gait Low anterior hairline Narrow palate Recurrent bacterial infections Widely spaced teeth Increased intracranial pressure Chronic otitis media Delusions Heart murmur Flat occiput Bowing of the legs Open bite Bowel incontinence Neurodevelopmental delay Femoral bowing Abnormality of the sternum Thickened calvaria Bronchitis Limb dystonia Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Laryngotracheal stenosis Lethal skeletal dysplasia Hypoplastic cervical vertebrae Astigmatism Hip subluxation Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Osteoporosis Vertebral fusion Overgrowth Falls Schmorl's node Craniosynostosis Retinopathy Heberden's node Wide nose Abnormal bone ossification Nevus Specific learning disability Cardiomegaly Split hand Thickened skin Bone pain Short ribs Opacification of the corneal stroma Aortic regurgitation Morphological abnormality of the central nervous system Rheumatoid arthritis Visual field defect Scleroderma Abnormality of the knee Bilateral talipes equinovarus Broad ribs Fatigue Short 1st metacarpal Short middle phalanx of the 5th finger Hyperextensibility of the finger joints Pseudoepiphyses of the metacarpals Delayed eruption of teeth Delayed tarsal ossification Proximal muscle weakness Flattened femoral head Abnormal joint morphology Osteochondritis Dissecans Ankle pain Round face Coxa valga Delayed epiphyseal ossification Metatarsus adductus Ovoid vertebral bodies Generalized joint laxity Short fourth metatarsal Limited hip movement Wide proximal femoral metaphysis Abnormal ossification involving the femoral head and neck Abnormality of the epiphysis of the femoral head Irregular capital femoral epiphysis Clinodactyly Clinodactyly of the 5th finger Rigidity Abnormality of bone mineral density Small hand Growth abnormality Beaking of vertebral bodies Abnormality of the optic nerve Hitchhiker thumb Ulnar deviation of finger Interphalangeal joint contracture of finger Blue sclerae Abnormality of the metaphysis Abnormal form of the vertebral bodies Congestive heart failure Increased bone mineral density Hoarse voice Abnormality of the outer ear Abnormality of the metacarpal bones Hyperextensible skin Elbow dislocation Overfolded helix Proximal placement of thumb Hip contracture Limb undergrowth Overweight Abnormality of the clavicle Spinal cord compression Thoracic dysplasia Large earlobe Symphalangism affecting the phalanges of the hand Metaphyseal dysplasia Ulnar deviation of the hand Visceral angiomatosis Neonatal short-limb short stature Spinal deformities Ulnar deviation of the wrist Cervical kyphosis Abnormality of the ribs Cerebral calcification Juvenile rheumatoid arthritis Exostoses Constrictive median neuropathy Carpal bone hypoplasia Mucopolysacchariduria Retinal vascular tortuosity J-shaped sella turcica Vascular tortuosity Hyperopic astigmatism Irregular carpal bones Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Subperiosteal bone resorption Deficiency of N-acetylglucosamine-1-phosphotransferase Soft tissue swelling of interphalangeal joints Micrognathia Full cheeks Abnormal facial shape Cryptorchidism Intrauterine growth retardation Pathologic fracture Respiratory insufficiency Joint hypermobility Abnormality of cardiovascular system morphology Obesity Abnormal heart morphology Platyspondyly Low-set, posteriorly rotated ears Camptodactyly of finger Arthrogryposis multiplex congenita Talipes Spinocerebellar tract disease in lower limbs



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

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