Arthritis, and Microdontia

Diseases related with Arthritis and Microdontia

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


Top matches:

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

Low 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

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

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Other less relevant matches:

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low 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

Low match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

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

Top 5 symptoms//phenotypes associated to Arthritis and Microdontia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Pain Intellectual disability Arthralgia Joint hyperflexibility Umbilical hernia Delayed eruption of teeth Blue sclerae Joint dislocation Inguinal hernia Abnormality of the dentition Scoliosis Abnormal facial shape Pes planus Thin skin Joint laxity Carious teeth Joint hypermobility Gingival overgrowth Osteolysis Hip dislocation Gingivitis Deeply set eye Cognitive impairment Abnormality of cardiovascular system morphology Hearing impairment Flexion contracture Abnormality of the elbow Motor delay Severe short stature Neoplasm Hypoplasia of penis High pitched voice Prematurely aged appearance Hypertension

Rare Symptoms - Less than 30% cases


Camptodactyly of finger Hypospadias Epicanthus Ptosis Nephrocalcinosis Dental malocclusion Short metacarpal Bulbous nose Smooth philtrum Protruding ear Hyperlordosis Thin upper lip vermilion Constipation Posteriorly rotated ears Alopecia Long philtrum Abnormality of the skeletal system Dysarthria Proportionate short stature Kyphoscoliosis Intrauterine growth retardation Pectus excavatum Growth delay Vomiting Gastroesophageal reflux High palate Aplasia/Hypoplasia of the abdominal wall musculature Periorbital edema Conductive hearing impairment Seizures Cystocele Arterial dissection Sprengel anomaly Enlarged joints Abnormality of the gingiva Abnormality of the skin Ascending tubular aorta aneurysm Global developmental delay Thin vermilion border Keratoconus Elbow dislocation Cryptorchidism Subcutaneous nodule Mitral valve prolapse Talipes equinovarus Short neck Migraine Vertigo Malabsorption Hypertelorism Telecanthus Underdeveloped supraorbital ridges Abnormal joint morphology Recurrent infections Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Premature loss of primary teeth Hyperextensible skin Mitral stenosis Striae distensae Osteoporosis Premature loss of teeth Periodontitis Hypercholesterolemia Soft skin Subarachnoid hemorrhage Reduced number of teeth Bruising susceptibility Cigarette-paper scars Fragile skin Hypohidrosis Mitral regurgitation High forehead Osteomyelitis Truncal obesity Gingival recession Short toe Hypoglycemia Fine hair Delayed puberty Depressed nasal ridge Uterine rupture Colonic diverticula Arterial rupture Internal hemorrhage Foot acroosteolysis Peripheral arteriovenous fistula Arteriovenous fistula Spontaneous pneumothorax Molluscoid pseudotumors Absent earlobe Coronary artery aneurysm Pulmonary artery aneurysm Arteriovenous fistulas of celiac and mesenteric vessels Renovascular hypertension Normal pressure hydrocephalus Uterine prolapse Dry skin Hypoplastic lacrimal duct Calcinosis cutis Vascular calcification Headache Pulp stones Intellectual disability, mild Atrial septal defect Subperiosteal bone formation Gait disturbance Periostosis Wide nasal bridge Hyperreflexia Premature delivery because of cervical insufficiency or membrane fragility Periostitis Delayed speech and language development Increased renal tubular phosphate reabsorption Low-set ears Abnormal oral frenulum morphology Strabismus Microcephaly Hypermobility of distal interphalangeal joints Hemothorax Decreased renal tubular phosphate excretion Aplasia/Hypoplasia of the earlobes Gastrointestinal infarctions Abnormal intestine morphology Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Rheumatoid arthritis Aortic aneurysm Redundant skin Hypokalemia Abnormality of the urinary system Tinnitus Sleep apnea Short chin Narrow nasal bridge Congenital hip dislocation Cardiac arrest Telangiectasia Abnormality of the face Premature birth Abnormal bleeding High, narrow palate Flat face Abnormality of skin pigmentation Macule Telangiectasia of the skin Dermal translucency Varicose veins Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Pneumothorax Bladder diverticulum Abnormal pupil morphology Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Abnormal heart valve morphology Abnormally large globe Aortic dissection Transient ischemic attack Narrow nose Abnormal eyelash morphology Dilatation of the cerebral artery Alopecia of scalp Esophageal atresia Hemoptysis Scleroderma Clinodactyly Mandibular prognathia Abnormal heart morphology Lipoma Anemia Speech apraxia Hypoplasia of dental enamel 11 pairs of ribs Villous atrophy Enuresis Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Short clavicles Hyperextensibility of the finger joints Celiac disease Bone pain Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the hand Recurrent streptococcus pneumoniae infections Broad columella Finger clinodactyly Curved fingers Ectodermal dysplasia Hyperhidrosis Cellulitis Frontal bossing Fever Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Conical incisor Broad fingertip Enlarged naris Tethered cord Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Spinal dysraphism Stiff neck Abnormality of the fingernails Generalized hirsutism Clinodactyly of the 5th finger Ectopic calcification Calcinosis Prominent nasal bridge Foam cells Short philtrum Craniosynostosis Wide mouth Joint stiffness Postnatal growth retardation Feeding difficulties in infancy Hypophosphatemic rickets Angioid streaks of the fundus Small for gestational age Intellectual disability, moderate Aggressive behavior Anxiety Septic arthritis Hydronephrosis Hypodontia Hypothyroidism Hyperactivity Upslanted palpebral fissure Babinski sign Neurological speech impairment Hyperphosphatemia Proptosis Prominent nose Long eyelashes Broad thumb Recurrent otitis media Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Apraxia Coarctation of aorta Otitis media Underdeveloped nasal alae Broad nasal tip Taurodontia Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Rickets Hyperostosis Hirsutism Hypophosphatemia Poor speech Hypermetropia Short thumb Delayed gross motor development Narrow mouth Sparse scalp hair Sparse lateral eyebrow Progressive spastic paraplegia Short finger Cone-shaped epiphysis Deep philtrum Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Paraplegia Avascular necrosis of the capital femoral epiphysis Hypotrichosis Spastic paraplegia Pectus carinatum Stroke Sparse hair Low-set, posteriorly rotated ears Osteopenia Macrotia Hypogonadism Recurrent respiratory infections Spondylolisthesis Slow-growing hair Generalized hypotonia Chin with horizontal crease Nausea and vomiting Apnea Myalgia Arrhythmia Depressivity Fatigue Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Accelerated bone age after puberty Spastic ataxia Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Concave nail Ataxia Lymphoid interstitial pneumonia Paresthesia Cutis laxa Generalized joint laxity Gingival bleeding Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Hypermelanotic macule Urticaria Dermal atrophy Vasculitis Poor wound healing Hoarse voice Tall stature Arachnodactyly Autoimmunity Scarring Erythema Hernia Edema Abnormality of the endocrine system Abnormality of the skull Chronic pain Palmoplantar cutis laxa Delayed menarche Progressive visual loss Immune dysregulation Concave nasal ridge External genital hypoplasia Keratitis Short long bone Increased body weight Lymphopenia Chronic diarrhea Abnormal lung morphology Eczema Growth hormone deficiency Premature loss of permanent teeth Prominent forehead Pneumonia Obesity Diarrhea Respiratory distress Failure to thrive Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Abnormality of the foot Nausea Glaucoma Short humerus Irregular epiphyses Shield chest Small epiphyses Disproportionate short-trunk short stature Short 4th metacarpal High anterior hairline Barrel-shaped chest Thoracic kyphosis Irregular vertebral endplates Arthropathy Hypoplasia of the capital femoral epiphysis Thin ribs Vertebral fusion Tibial bowing Limited elbow extension Short thorax Short femoral neck Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Spondyloepiphyseal dysplasia Coronal cleft vertebrae Flattened epiphysis Heart murmur Tricuspid stenosis Hydrocephalus Respiratory insufficiency Macrocephaly Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Anisospondyly Ulnar bowing Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Tricuspid regurgitation Cubitus valgus Sleep disturbance Gastrointestinal dysmotility Skeletal dysplasia Kyphosis Ventricular septal defect Genital hernia Tendon rupture Premature rupture of membranes Anorectal anomaly Abnormality of the menstrual cycle Venous insufficiency Abnormality of the wrist Microtia Atypical scarring of skin Acrocyanosis Aortic root aneurysm Keratoconjunctivitis sicca Decreased fertility Decreased nerve conduction velocity Abnormal palate morphology Wormian bones Limitation of joint mobility Abdominal distention Camptodactyly Broad forehead Sparse eyebrow Ventricular hypertrophy Widely spaced teeth Aortic regurgitation Spina bifida occulta Bilateral single transverse palmar creases Spina bifida Aortic valve stenosis Sparse and thin eyebrow Rhizomelia Bowing of the long bones Abnormal form of the vertebral bodies Pulmonary arterial hypertension Platyspondyly Lumbar hyperlordosis Limb undergrowth Wide intermamillary distance Waddling gait Highly arched eyebrow Short distal phalanx of finger Thick eyebrow Talipes Genu valgum Pulmonic stenosis Conjunctival whitish salt-like deposits



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

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