Arthritis, and Abnormality of the dentition

Diseases related with Arthritis and Abnormality of the dentition

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


Top matches:

Low match LEGG-CALVÉ-PERTHES DISEASE


Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease|osteochondrosis of the capital femoral epiphysis|perthes disease|aseptic necrosis of the capital femoral epiphysis|lcp|osteochondritis of the capital femoral epiphysis

Related symptoms:

  • Short stature
  • Pain
  • Skeletal muscle atrophy
  • Abnormality of the dentition
  • Depressivity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGG-CALVÉ-PERTHES DISEASE

Low match X-LINKED HYPOPHOSPHATEMIA


X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

X-LINKED HYPOPHOSPHATEMIA Is also known as xlh|x-linked hypophosphatemic rickets

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormality of the dentition
  • Craniosynostosis
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED HYPOPHOSPHATEMIA

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Other less relevant matches:

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Low 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

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low 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

Low match FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME


Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME Is also known as cortical hyperostosis with hyperphosphatemia|calcinosis, tumoral, with hyperphosphatemia|hftc|hhs|hyperostosis with hyperphosphatemia|hypercalcemic tumoral calcinosis|tumoral calcinosis, hyperphosphatemic, familial|phptc|hyperostosis-hyperphosphatemia syn

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Dilatation
  • Arthritis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Abnormality of the dentition

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Bone pain Uncommon - Between 30% and 50% cases
Hypodontia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Abnormality of the dentition. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed eruption of teeth Rickets Arthralgia Delayed skeletal maturation Hypophosphatemia

Rare Symptoms - Less than 30% cases


Multiple epiphyseal dysplasia Genu varum Bowing of the legs Fever Osteomalacia Hearing impairment Epiphyseal dysplasia Muscle weakness Abnormal facial shape Abnormality of epiphysis morphology Hip dysplasia Brachydactyly Scoliosis Craniosynostosis Irregular epiphyses Hypophosphatemic rickets Genu valgum Frontal bossing Osteomyelitis Dry skin Joint dislocation Abnormality of the lower limb Flattened epiphysis Knee osteoarthritis Mild short stature Ankle pain Hypertension Dilatation Abnormality of the skin Spinal canal stenosis Hypoplasia of dental enamel Nephrocalcinosis Anemia Renal phosphate wasting Depressed nasal bridge Osteochondritis Dissecans Hypoplasia of the capital femoral epiphysis Small epiphyses Gait disturbance Myopathy Proximal muscle weakness Micromelia Abnormal joint morphology Short palm Limitation of joint mobility Taurodontia Waddling gait Hyperostosis Calcinosis cutis Hyperphosphatemia Reduced number of teeth Microdontia Hypoplasia of penis Blue sclerae Depressed nasal ridge Hypohidrosis Short toe Hypercholesterolemia High pitched voice Hypoglycemia Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Abnormality of the skull Abnormality of the endocrine system Aplasia/Hypoplasia involving the nose Delayed puberty High forehead Calcinosis Periostosis Foam cells Ectopic calcification Angioid streaks of the fundus Septic arthritis Vascular calcification Pulp stones Subperiosteal bone formation Hypercalciuria Severe short stature Periostitis Increased renal tubular phosphate reabsorption Decreased renal tubular phosphate excretion Conjunctival whitish salt-like deposits Intellectual disability Micrognathia Motor delay Hyperparathyroidism Hyperextensibility of the finger joints Elevated alkaline phosphatase Abnormality of the metaphysis Atopic dermatitis Aortic valve stenosis Mitral regurgitation Inflammatory abnormality of the skin Hyperkeratosis Glaucoma Edema Abnormality of the skeletal system Flexion contracture Generalized hypotonia Tooth abscess Enthesitis Rachitic rosary Abnormality of dental enamel Recurrent fractures Calcification of the aorta Skeletal muscle atrophy Hyperhidrosis Ectodermal dysplasia Cellulitis Periorbital edema Conical incisor Recurrent streptococcus pneumoniae infections Depressivity Cartilage destruction Congenital hip dislocation Hyperkinesis Aseptic necrosis Lower limb asymmetry Avascular necrosis of the capital femoral epiphysis Synovitis Pulmonary edema Neoplasm Coxa vara Metaphyseal dysplasia Generalized muscle weakness Muscle cramps Carious teeth Dolichocephaly Fatigue Sensorineural hearing impairment Pseudoepiphyses of the metacarpals Premature osteoarthritis Pseudoepiphyses Hip pain Hip osteoarthritis Delayed ossification of carpal bones Short middle phalanx of the 5th finger Short 1st metacarpal Short middle phalanx of finger Inguinal hernia Nephroblastoma Umbilical hernia Irritability Joint hypermobility Bruising susceptibility Lymphoma Hyperextensible skin Atrophic scars Cone-shaped epiphysis Fragile skin Gingival bleeding Premature loss of teeth Periodontitis Gingival recession Joint hyperflexibility Hypoplastic nasal bridge



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

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