Arthritis, and Lumbar hyperlordosis

Diseases related with Arthritis and Lumbar hyperlordosis

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


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT


SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT Is also known as spondyloepiphyseal dysplasia, late|sed tarda, x-linked

Related symptoms:

  • Short stature
  • Scoliosis
  • Short neck
  • Kyphosis
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA


Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Abnormality of the skeletal system
  • Short neck


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

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Other less relevant matches:

Medium match X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA


X-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA Is also known as semd, x-linked

Related symptoms:

  • Growth delay
  • Brachydactyly
  • Kyphosis
  • Severe short stature
  • Arthritis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium 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

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Arthritis and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Hyperlordosis Very Common - Between 80% and 100% cases
Arthralgia Common - Between 50% and 80% cases
Platyspondyly Common - Between 50% and 80% cases
Spondyloepiphyseal dysplasia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Lumbar hyperlordosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Osteoarthritis

Uncommon Symptoms - Between 30% and 50% cases


Disproportionate short stature

Common Symptoms - More than 50% cases


Severe short stature

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis

Common Symptoms - More than 50% cases


Skeletal dysplasia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Rhizomelia

Uncommon Symptoms - Between 30% and 50% cases


Limited elbow extension Brachydactyly Barrel-shaped chest Waddling gait Micromelia Pain Abnormality of the skeletal system Limb undergrowth Growth delay Short metacarpal Short long bone Hypoplasia of the odontoid process Epiphyseal dysplasia Hearing impairment Malar flattening Delayed skeletal maturation Midface retrusion Short neck Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palm Limited hip extension Conductive hearing impairment Back pain Enlarged joints Flared metaphysis Hypertelorism Cervical myelopathy Myelopathy Generalized hypotonia Metaphyseal irregularity Bowing of the legs Intellectual disability Abnormal lung morphology Genu valgum Genu varum Flexion contracture Irregular epiphyses Gait disturbance Multiple epiphyseal dysplasia Disproportionate short-trunk short stature Short femoral neck Kyphoscoliosis Abnormality of epiphysis morphology Coxa vara Pectus carinatum Depressed nasal bridge Short thorax Irregular vertebral endplates

Rare Symptoms - Less than 30% cases


Abnormality of the elbow Talipes equinovarus Hip dislocation Broad forehead Respiratory tract infection Apnea Hypertension Myopia Tibial bowing Cleft palate Sensorineural hearing impairment Autoimmunity Hip osteoarthritis Restrictive ventilatory defect Retinal detachment Frontal bossing Hypoplasia of the capital femoral epiphysis Spinal canal stenosis Ventricular septal defect Long philtrum Childhood onset short-limb short stature Limitation of joint mobility Cervical cord compression Premature osteoarthritis Otitis media Small epiphyses Beaking of vertebral bodies Abnormal joint morphology Sleep apnea Coronal cleft vertebrae Disproportionate short-limb short stature Motor delay Short distal phalanx of finger Joint hyperflexibility Hypoplastic iliac wing Flattened epiphysis Shield chest Vitreoretinopathy Anemia Intellectual disability, mild Recurrent otitis media Upper limb undergrowth Short phalanx of finger Short foot Osteochondritis Dissecans Growth abnormality Abnormal facial shape Decreased hip abduction Joint stiffness Thoracic kyphosis Camptodactyly of finger Talipes Pulmonic stenosis Osteopetrosis Microtia Pes planus Camptodactyly Abnormality of cardiovascular system morphology Highly arched eyebrow Generalized joint laxity Communicating hydrocephalus Pectus excavatum Thick eyebrow Iritis Delayed eruption of teeth Wide intermamillary distance Hypopnea Aplasia/Hypoplasia of the capital femoral epiphysis Microdontia Pulmonary arterial hypertension Megalencephaly Ventricular hypertrophy Mitral regurgitation Small foramen magnum Spinal cord compression Bowing of the long bones Brain stem compression Sparse and thin eyebrow High palate Abnormal lacrimal duct morphology Large tarsal bones Feeding difficulties in infancy Encephalocele Depressed nasal ridge Abnormality of the skin Thoracolumbar kyphosis Bulbous nose Central sleep apnea Muscular hypotonia of the trunk Prominent supraorbital ridges Myelitis Chronic myelogenous leukemia Neonatal short-limb short stature Proptosis Short nose Anteverted nares Recurrent pneumonia Recurrent ear infections Upper airway obstruction Pierre-Robin sequence Spina bifida Prominent interphalangeal joints Enlarged epiphyses Dysuria Central apnea Short 5th metacarpal Abnormality of femur morphology Mixed hearing impairment Cor pulmonale Meningocele Glossoptosis Synostosis of carpal bones Hypoxemia Obstructive lung disease Occipital encephalocele Aortic valve stenosis Spinal stenosis with reduced interpedicular distance Bilateral single transverse palmar creases Generalized bone demineralization Fixed elbow flexion Deviation of the 5th finger Strabismus Tetraparesis Trident hand Multiple carpal ossification centers Intervertebral disc degeneration Delayed speech and language development Tricuspid stenosis Anisospondyly Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Recurrent urinary tract infections Shoulder dislocation Neoplasm Hyperreflexia Knee dislocation Rigidity Leukemia Scarring Oral cleft Cleft lip Sleep disturbance Abnormality of the nervous system Gastroesophageal reflux Macrocephaly Weight loss Obesity Hydrocephalus Lymphoma Overgrowth Ventriculomegaly Epidermal acanthosis Multiple joint dislocation Abnormality of the carpal bones Confusion Neuroblastoma Heart murmur Cubitus valgus Chronic otitis media Sparse eyebrow Bowel incontinence Myeloid leukemia Elbow dislocation Tricuspid regurgitation Delayed gross motor development Widely spaced teeth Aortic regurgitation Spina bifida occulta Hip contracture Obstructive sleep apnea Joint dislocation Abnormality of pelvic girdle bone morphology Tinnitus Spinal deformities Short humerus Frontal upsweep of hair Ulnar bowing Mitral stenosis Short 4th metacarpal High anterior hairline Short toe Arthropathy Infantile muscular hypotonia Thin ribs Clonus Paraparesis Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Acanthosis nigricans Vertebral fusion Delayed calcaneal ossification Micrognathia Diarrhea Hypothyroidism Recurrent respiratory infections Pneumonia Thrombocytopenia Recurrent infections Immunodeficiency Low-set ears Lymphadenopathy Spasticity Global developmental delay Cone-shaped epiphyses fused within their metaphyses Anterior wedging of T11 Long ulna Anterior wedging of T12 Cone-shaped distal radial epiphysis Abnormality of the cerebral white matter Hemolytic anemia Broad long bone diaphyses Rheumatoid arthritis Autoimmune hemolytic anemia Basal ganglia calcification Scleroderma Hypermelanotic macule Combined immunodeficiency Spastic diplegia Nephritis Tetraplegia Systemic lupus erythematosus Encephalitis Purpura Recurrent bacterial infections Spastic tetraplegia Hepatitis Cerebral calcification Prominent styloid process of ulna Cone-shaped metacarpal epiphyses Autoimmune thrombocytopenia Childhood-onset short-trunk short stature Joint swelling Proportionate short stature Broad hallux Mild short stature Accelerated skeletal maturation Short thumb Cervical subluxation Abnormality of tibia morphology Knee pain Hip pain Synovitis Avascular necrosis of the capital femoral epiphysis Congenital hip dislocation Hump-shaped mound of bone in central and posterior portions of vertebral endplate Opacification of the corneal stroma Exostoses Abnormality of the knee Posterior rib cupping Spondyloepimetaphyseal dysplasia Radial deviation of the hand Long fibula Broad metacarpals Broad phalanx Narrow pelvis bone Delayed ossification of carpal bones Flared iliac wings Flat acetabular roof Low back pain Cone-shaped epiphyses of the phalanges of the hand Short clavicles Coxa valga Hypoplasia of the maxilla Abnormality of skeletal physiology Quadriceps muscle atrophy Limited elbow flexion Recurrent sinusitis Vitiligo Small epiphyses of the phalanges of the hand Metaphyseal widening Genu recurvatum Insulin-resistant diabetes mellitus Metaphyseal dysplasia Abnormality of the hip bone Rickets Scaling skin Hyperinsulinemia Intestinal polyposis Hypogonadotrophic hypogonadism Abnormal vertebral morphology Type II diabetes mellitus Bilateral sensorineural hearing impairment Growth hormone deficiency Sensory neuropathy Delayed puberty Delayed epiphyseal ossification Decreased serum testosterone level Osteopenia Irregular carpal bones Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Flared femoral metaphysis Decreased serum estradiol Cervical instability Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Carpal bone hypoplasia Ulnar deviation of the hand Joint laxity Alopecia Narrow nose Metaphyseal sclerosis Cataract Muscular hypotonia Muscle weakness Nystagmus Hypopigmented skin patches on arms Arthralgia/arthritis Progressive spastic quadriplegia Congestive heart failure Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Respiratory distress Hernia Limitation of knee mobility Progressive sensorineural hearing impairment Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Limited elbow movement Ovoid vertebral bodies Vestibular dysfunction Polydactyly High myopia Pulmonary hypoplasia Flat face Retinal degeneration Paresthesia Narrow chest Glaucoma Lumbar kyphosis in infancy



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

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