Arthritis, and Hypodontia

Diseases related with Arthritis and Hypodontia

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


Top 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

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Other less relevant matches:

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match PRIMARY FAILURE OF TOOTH ERUPTION


PRIMARY FAILURE OF TOOTH ERUPTION Is also known as posterior openbite malocclusion, familial|unerupted second primary molar|dental noneruption|pfe|primary failure of eruption, nonsyndromic|primary retention of teeth

Related symptoms:

  • Abnormality of the dentition
  • Hypodontia
  • Open bite
  • Agenesis of permanent teeth
  • Increased number of teeth


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY FAILURE OF TOOTH ERUPTION

Low match EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE


EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE Is also known as epidermolysis bullosa junctionalis, progressive|epidermolysis bullosa junctionalis, non-herlitz type|epidermolysis bullosa junctionalis, disentis type|epidermolysis bullosa junctionalis, severe nonlethal|epidermolysis bullosa, generalized atrophic benign|

Related symptoms:

  • Abnormality of the dentition
  • Alopecia
  • Scarring
  • Camptodactyly of finger
  • Nail dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match TOOTH AGENESIS, SELECTIVE, 1; STHAG1


Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth AgenesisOther forms of selective tooth agenesis include STHAG2 (OMIM ), mapped to chromosome 16q12; STHAG3 (OMIM ), caused by mutation in the PAX9 gene (OMIM ) on chromosome 14q12; STHAG4 (OMIM ), caused by mutation in the WNT10A gene (OMIM ) on chromosome 2q35; STHAG5 (OMIM ), mapped to chromosome 10q11; STHAG7 (OMIM ), caused by mutation in the LRP6 gene (OMIM ) on chromosome 12p13; STHAG8 (OMIM ), caused by mutation in the WNT10B gene (OMIM ) on chromosome 12q13; STHAG9 (OMIM ), caused by mutation in the GREM2 gene (OMIM ) on chromosome 1q43; and STHAGX1 (OMIM ), caused by mutation in the EDA gene (OMIM ) on chromosome Xq13.A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS ).Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype CorrelationsYu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.

TOOTH AGENESIS, SELECTIVE, 1; STHAG1 Is also known as hyd1|hypodontia/oligodontia 1|second premolars and third molars, absence of|tooth agenesis, familial

Related symptoms:

  • Short stature
  • Abnormality of the dentition
  • Hypodontia
  • Oligodontia
  • Reduced number of teeth


SOURCES: OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 1; STHAG1

Low match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Hypodontia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed eruption of teeth Pain Frontal bossing Ectodermal dysplasia

Rare Symptoms - Less than 30% cases


Nail dysplasia Multiple epiphyseal dysplasia Failure to thrive Growth delay Delayed puberty Sparse hair Limitation of joint mobility Hypohidrosis Hypoplasia of dental enamel Hypogonadism Flexion contracture Hip pain Intellectual disability Irregular epiphyses Fragile nails Hearing impairment Cataract Ankylosis Increased number of teeth Dermal atrophy Micrognathia Epiphyseal dysplasia Skeletal muscle atrophy Abnormality of epiphysis morphology Sensorineural hearing impairment Taurodontia Dry skin Hip dysplasia Intermittent claudication Decreased testosterone in males Corneal arcus Sinus tachycardia Widely patent fontanelles and sutures Insulin-resistant diabetes mellitus at puberty Premature coronary artery atherosclerosis Abnormal trabecular bone morphology Bird-like facies Parietal bossing Mitral valve calcification Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Bilateral coxa valga Narrow nasal tip Thin nail Carotid artery stenosis Absence of pubertal development Fever Absence of subcutaneous fat Hypoplastic nipples Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Short clavicles Renal cell carcinoma Keratoconjunctivitis sicca Down-sloping shoulders Thin ribs Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Transient ischemic attack Hyperphosphatemia Aplastic clavicle Enlarged joints Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Precocious atherosclerosis Ovoid vertebral bodies Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Regional abnormality of skin Persistence of primary teeth Arteriosclerosis of small cerebral arteries Selective tooth agenesis Macrodontia Pulp stones High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Otitis media with effusion Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Oligodontia Reduced number of teeth Anodontia Microcephaly Retinal coloboma Intellectual disability, severe Hypothyroidism Kyphoscoliosis Hyperpigmentation of the skin Gynecomastia Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Motor deterioration Upper motor neuron dysfunction Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Central adrenal insufficiency Ulnar deviation of the hand or of fingers of the hand High-frequency hearing impairment Periodontitis Tapering pointed ends of distal finger phalanges Plantar hyperkeratosis Open bite Agenesis of permanent teeth Heart murmur Multiple impacted teeth Failure of eruption of permanent teeth Unerupted tooth Abnormality of dental eruption Scarring Camptodactyly of finger Nail dystrophy Abnormal blistering of the skin Milia Atrophic scars Skin vesicle Oral mucosal blisters Progressive sensorineural hearing impairment Loss of eyelashes Palmar hyperhidrosis Anteverted nares Long philtrum Microphthalmia Coloboma Long face Iris coloboma Microcornea Full cheeks Bilateral sensorineural hearing impairment Gingival overgrowth Abnormality of dental enamel Progressive hearing impairment Multiple joint contractures Hypergonadotropic hypogonadism Abnormality of the thorax Respiratory tract infection Small epiphyses Hypoplasia of the capital femoral epiphysis Osteochondritis Dissecans Flattened epiphysis Knee osteoarthritis Ankle pain Delayed speech and language development Diarrhea Immunodeficiency Recurrent infections Pneumonia Recurrent respiratory infections Hepatosplenomegaly Fine hair Mild short stature Sparse scalp hair Chronic diarrhea Bronchiectasis Anhidrosis Leukocytosis Agammaglobulinemia Heat intolerance Conical tooth Concave nasal ridge Lymphocytosis Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Abnormal joint morphology Genu varum Scoliosis Short middle phalanx of the 5th finger Hyperhidrosis Osteomyelitis Cellulitis Periorbital edema Conical incisor Recurrent streptococcus pneumoniae infections Brachydactyly Delayed skeletal maturation Joint hyperflexibility Cone-shaped epiphysis Short middle phalanx of finger Metaphyseal dysplasia Short 1st metacarpal Hyperextensibility of the finger joints Waddling gait Delayed ossification of carpal bones Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Pseudoepiphyses of the metacarpals Muscle weakness Depressed nasal bridge Gait disturbance Myopathy Arthralgia Proximal muscle weakness Genu valgum Micromelia Short palm Defective production of NFKB1-dependent cytokines Neoplasm Metaphyseal widening Aspiration Cyanosis Abnormality of the cardiovascular system Cardiomegaly Myocardial infarction Hypertriglyceridemia Thin skin Broad-based gait Decreased body weight Left ventricular hypertrophy Dental crowding Insulin resistance Sparse and thin eyebrow Aortic valve stenosis Increased bone mineral density Growth hormone deficiency Hypogonadotrophic hypogonadism Coxa valga Aminoaciduria Osteolysis Atherosclerosis Hyperlipidemia Acanthosis nigricans Hypercholesterolemia Relative macrocephaly Nasal speech Intracranial hemorrhage Lipodystrophy Hyperinsulinemia Premature ovarian insufficiency Convex nasal ridge Chest pain Abnormal facial shape Dyspnea Hypertension Macrocephaly Abnormality of the skeletal system Cardiomyopathy Congestive heart failure Kyphosis Short nose Malar flattening Midface retrusion Dementia Prominent forehead Osteoporosis Narrow mouth Proptosis Macrotia Hepatic steatosis Osteopenia Conductive hearing impairment Carcinoma Hypertrophic cardiomyopathy Joint stiffness Stroke Microtia Hip dislocation Dilated cardiomyopathy Hypermetropia Hypotrichosis Narrow chest Infertility Thin vermilion border Compensated hypothyroidism



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

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