Arthritis, and Prominent nasal bridge

Diseases related with Arthritis and Prominent nasal bridge

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


Top matches:

Medium 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

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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Other less relevant matches:

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

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 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

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 STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Top 5 symptoms//phenotypes associated to Arthritis and Prominent nasal bridge

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Prominent nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Gastroesophageal reflux Gait disturbance Brachydactyly Delayed skeletal maturation Joint hyperflexibility Intellectual disability Hypothyroidism Cataract Scoliosis Seizures Arthralgia Mandibular prognathia Constipation Kyphoscoliosis Umbilical hernia Waddling gait Malar flattening Joint laxity Feeding difficulties in infancy Arachnodactyly Short philtrum Bulbous nose Behavioral abnormality Small hand Optic atrophy Kyphosis Genu valgum Anxiety Celiac disease Microcephaly Pain Sensorineural hearing impairment Delayed puberty Cryptorchidism Intrauterine growth retardation Strabismus Midface retrusion Growth delay Short neck Global developmental delay Mitral valve prolapse Dilatation Joint hypermobility

Rare Symptoms - Less than 30% cases


Cleft palate Talipes equinovarus Ventricular septal defect Proportionate short stature Downslanted palpebral fissures Truncal obesity Pectus excavatum Ptosis Exostoses Enlarged joints Hyperextensibility of the finger joints Muscular hypotonia Motor delay Failure to thrive Hypertelorism Hyperlordosis Hernia Frontal bossing Mild short stature Myopia Generalized hypotonia Osteochondritis Dissecans Edema High forehead Cardiomyopathy Genu varum Hypohidrosis Limitation of joint mobility Laryngomalacia Retinal detachment Abnormality of the skull Chronic obstructive pulmonary disease Lumbar hyperlordosis Abnormal aortic valve morphology Purpura Abnormality of epiphysis morphology Growth abnormality Thick vermilion border High pitched voice Epiphyseal dysplasia Reduced number of teeth Retinopathy Thick eyebrow Abnormal joint morphology Pes planus Myalgia Glaucoma Depressivity Obesity Thrombocytopenia Microphthalmia Pectus carinatum Long philtrum Muscle weakness Stroke Severe short stature Upslanted palpebral fissure Microdontia Small for gestational age Wide nasal bridge Joint stiffness Hypospadias Wide mouth Abnormality of the skeletal system Atrial septal defect Vomiting Hypoplasia of penis Otitis media Short thumb Abnormality of the dentition Posteriorly rotated ears Prominent nose Hypoplasia of the maxilla Abnormality of cardiovascular system morphology Intellectual disability, mild Smooth philtrum Headache Neurological speech impairment Long eyelashes Malabsorption Inguinal hernia Hypertension Cognitive impairment High palate Clinodactyly of the 5th finger Low-set ears Blue sclerae Nasal speech Thin upper lip vermilion Telecanthus Abnormality of the hand Clubbing Intellectual disability, moderate Postnatal growth retardation Conductive hearing impairment Astigmatism Microcornea Short metacarpal Retinal degeneration Decreased female libido Retinal dystrophy Neutropenia Iris coloboma Abnormality of skin pigmentation Single transverse palmar crease Tapered finger Highly arched eyebrow Abnormality of cardiovascular system physiology Abnormal endocardium morphology High, narrow palate Tortuosity of conjunctival vessels Growth hormone deficiency Intellectual disability, progressive Intracranial hemorrhage Radioulnar synostosis Conjunctival telangiectasia Precocious puberty Short metatarsal Microalbuminuria Recurrent skin infections Venous thrombosis Leukopenia Primary hypothyroidism Biventricular hypertrophy Sandal gap Low anterior hairline Aciduria Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Tall stature Clumsiness Open mouth Decreased fetal movement Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge High myopia Nyctalopia Vascular skin abnormality Functional abnormality of the gastrointestinal tract Shortened PR interval Recurrent infections Coronary artery stenosis Blindness Respiratory distress Concentric hypertrophic cardiomyopathy Macrocephaly Mucosal telangiectasiae Unexplained fevers ST segment depression Visual impairment Nystagmus Impaired renal concentrating ability Angiokeratoma corporis diffusum Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormality of glycosphingolipid metabolism Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Abnormality of the forehead Decreased lacrimation Shortened QT interval Retinal vascular tortuosity Abnormality of temperature regulation Synophrys Severe global developmental delay Corneal crystals Limb pain Finger syndactyly Hyperkeratotic papule Paralysis Protruding ear Respiratory tract infection Neonatal hypotonia Retrognathia Macrotia Reduced visual acuity Hyposthenuria Diabetes mellitus Rod-cone dystrophy Nephrogenic diabetes insipidus Cerebellar hypoplasia Decreased glomerular filtration rate Visual loss Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Obstructive lung disease Impaired temperature sensation Failure to thrive in infancy Abnormality of the foot Rheumatoid arthritis Back pain Delayed eruption of teeth Hypoglycemia Abnormality of skeletal physiology Quadriceps muscle atrophy Limited elbow flexion Decreased hip abduction Low back pain Abnormality of the knee Abnormality of tibia morphology Joint swelling Disproportionate short stature Limited elbow extension Broad hallux Accelerated skeletal maturation Short toe Skeletal dysplasia Ankle pain Knee osteoarthritis Flattened epiphysis Hypoplasia of the capital femoral epiphysis Small epiphyses Irregular epiphyses Multiple epiphyseal dysplasia Hip dysplasia Hypodontia Short palm Micromelia Proximal muscle weakness Myopathy Depressed nasal ridge Hypercholesterolemia Severe carpal ossification delay Hip dislocation Excessive wrinkled skin Poor wound healing Soft skin Fragile skin Atrophic scars Hallux valgus Hyperextensible skin Delayed gross motor development Joint dislocation Wormian bones Congenital hip dislocation Recurrent fractures Bruising susceptibility Osteoporosis Prematurely aged appearance Abnormal metacarpal morphology Abnormal vitreous humor morphology Pierre-Robin sequence Glossoptosis Arthropathy Long fingers Spondyloepiphyseal dysplasia Bifid uvula Anteverted nares Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Abnormality of the endocrine system Abnormality of the elbow Underdeveloped supraorbital ridges Irregular, rachitic-like metaphyses Irregular acetabular roof Cubitus valgus Facial hypotonia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Congenital neutropenia Microglossia Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Granulocytopenia Hyperplasia of the maxilla Caudal appendage Narrow chest Aplastic clavicle Carpal bone hypoplasia Spondylometaphyseal dysplasia Abnormality of the rib cage Flared iliac wings Disproportionate short-trunk short stature Flat acetabular roof Hypoplasia of the odontoid process Short thorax Flared metaphysis Bowing of the legs Coxa vara Abnormality of the face Dysesthesia Platyspondyly Laryngeal stenosis Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Supraventricular arrhythmia Polyuria Abnormal cornea morphology Specific learning disability Overfolded helix Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Schizophrenia Hypopigmented skin patches Abnormality of dental enamel Hypocalcemia Spina bifida Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Gastrointestinal hemorrhage Acne Intestinal malrotation Vesicoureteral reflux Asthma Long face Anal atresia Carious teeth Attention deficit hyperactivity disorder Autoimmunity Polyhydramnios Narrow mouth Autism Patent ductus arteriosus Immunodeficiency Splenomegaly Chronic otitis media Dysphasia Epicanthus Tetany Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Corneal neovascularization Bowel incontinence Hypoparathyroidism Hyperthyroidism Foot polydactyly Posterior embryotoxon Abnormal lung lobation Bipolar affective disorder Turricephaly Patellar dislocation Abnormality of the uterus Multiple renal cysts Meningocele Truncus arteriosus Abnormal eyelid morphology Varicose veins Atelectasis Hydrocephalus Mesocardia Abnormality of the tonsils Thin vermilion border Generalized hirsutism Broad thumb Recurrent otitis media Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Apraxia Coarctation of aorta Underdeveloped nasal alae Dental malocclusion Broad nasal tip Triangular face Downturned corners of mouth Hirsutism Poor speech Nephrocalcinosis Hypermetropia Camptodactyly of finger Craniosynostosis Aggressive behavior Hydronephrosis Deeply set eye Hyperactivity Babinski sign Abnormal heart morphology Clinodactyly Dysarthria Hyperreflexia Delayed speech and language development Neoplasm Finger clinodactyly Abnormality of the fingernails Generalized cerebral atrophy/hypoplasia Tethered cord Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris 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 Broad columella Abnormality of the voice Lipoma Trigonocephaly Language impairment Impulsivity Preauricular pit Short clavicles Sprengel anomaly Cone-shaped epiphyses of the phalanges of the hand Speech apraxia Short columella Abnormality of the clavicle Short attention span Enuresis Villous atrophy 11 pairs of ribs Tricuspid atresia Occipital myelomeningocele Abnormality of the renal tubule Impotence Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Transient ischemic attack Loss of consciousness Emphysema Anhidrosis Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Heart murmur Personality changes Polydipsia Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Xerostomia Renal tubular dysfunction Tinnitus Abnormality of femur morphology Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Chronic fatigue Edema of the lower limbs Supraventricular tachycardia Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Large earlobe Heat intolerance Myocardial fibrosis Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Achalasia Sinus bradycardia Easy fatigability Ventricular arrhythmia Anemia Hypertrophic cardiomyopathy Tachycardia Nausea Stage 5 chronic kidney disease Vertigo Paresthesia Nausea and vomiting Abnormality of the cerebral white matter Pruritus Papule Corneal opacity Cough Skin rash Developmental regression Abnormality of the kidney Abnormality of the nervous system Nephropathy Renal insufficiency Peripheral neuropathy Fever Fatigue Respiratory insufficiency Diarrhea Congestive heart failure Arrhythmia Proteinuria Hyperhidrosis Abdominal pain Hyperkeratosis Dyspnea Coarse facial features Carcinoma Hematuria Muscle cramps Reduced bone mineral density Anorexia Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Hyperlipidemia Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Left ventricular hypertrophy Abdominal distention Nephrotic syndrome Chest pain Sudden cardiac death Syncope Urinary incontinence Hypotension Abnormality of the cardiovascular system Ventricular hypertrophy Subcutaneous nodule Thick lower lip vermilion Atrial fibrillation Myocardial infarction Palpitations Mitral regurgitation Abnormal lung morphology Subcutaneous hemorrhage



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

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