Arthritis, and Thick eyebrow

Diseases related with Arthritis and Thick eyebrow

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


Top matches:

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 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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 ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Low match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match WAARDENBURG SYNDROME TYPE 3


Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Top 5 symptoms//phenotypes associated to Arthritis and Thick eyebrow

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Highly arched eyebrow Uncommon - Between 30% and 50% cases
Synophrys Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism High palate Sensorineural hearing impairment Global developmental delay Abnormal facial shape Short neck Kyphosis Generalized hypotonia Coarse facial features Mandibular prognathia Gingival overgrowth Scoliosis Seizures Optic atrophy Motor delay Behavioral abnormality Tapered finger Long eyelashes Genu valgum Macroglossia Cubitus valgus Heart murmur Kyphoscoliosis Talipes equinovarus Microcephaly Cataract Pectus excavatum Bulbous nose Thick vermilion border

Rare Symptoms - Less than 30% cases


Midface retrusion Respiratory tract infection Anxiety Macrotia Growth delay Nystagmus Babinski sign Depressivity Hernia Depressed nasal bridge Recurrent infections Malar flattening Hyperreflexia Intellectual disability, mild Strabismus Abnormality of the skeletal system Muscular hypotonia Macrocephaly Pain Spasticity Cognitive impairment Delayed speech and language development Myopia Skeletal muscle atrophy Low anterior hairline Corneal opacity Papule Posteriorly rotated ears Hypothyroidism Protruding ear Joint laxity Stroke Prominent nasal bridge Celiac disease Dilatation Delayed puberty Obesity Downslanted palpebral fissures Micrognathia Mitral valve prolapse Thick lower lip vermilion Short philtrum Joint hyperflexibility Neurological speech impairment Narrow nasal bridge Abnormality of the cerebral white matter Retinal degeneration Otitis media Depressed nasal ridge Tall stature Prominent supraorbital ridges Hirsutism Edema Craniofacial hyperostosis Abnormal cornea morphology Progressive microcephaly Prominent nose Joint hypermobility Cardiomyopathy Reduced ejection fraction Hypertrichosis Lumbar hyperlordosis Ventricular hypertrophy Ventricular septal defect Broad forehead High anterior hairline Brachydactyly Pes planus Talipes Shield chest Bowing of the long bones Arthralgia Short metacarpal Blepharophimosis Mitral regurgitation Skeletal dysplasia Camptodactyly of finger Widely spaced teeth Delayed skeletal maturation Aortic regurgitation Tricuspid regurgitation Sparse eyebrow Long face Reduced visual acuity Dolichocephaly Unsteady gait Diabetes mellitus Postnatal microcephaly Rod-cone dystrophy Cerebellar hypoplasia Brain atrophy Clinodactyly of the 5th finger Respiratory distress Hypsarrhythmia Thrombocytopenia Microphthalmia Failure to thrive Cryptorchidism Gastroesophageal reflux Blindness Ptosis Visual impairment Intrauterine growth retardation Visual loss Feeding difficulties in infancy Retrognathia Hypoplasia of the corpus callosum Single transverse palmar crease White hair Retinal detachment Small hand High, narrow palate Retinal dystrophy Abnormality of the upper limb Iris coloboma Atelectasis Abnormality of skin pigmentation Arachnodactyly Astigmatism Smooth philtrum Low-set ears Pes cavus Thin upper lip vermilion Severe global developmental delay Finger syndactyly Small for gestational age Hyperactivity Nyctalopia EEG abnormality Retinopathy Wide mouth Paralysis Aggressive behavior Postnatal growth retardation Intellectual disability, moderate Muscular hypotonia of the trunk Neonatal hypotonia Cornea verticillata Deep philtrum Abnormal glomerular filtration rate Tubulointerstitial fibrosis Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Decreased muscle mass Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormality of the renal tubule Abnormal thrombosis Chronic pain Limb pain High-frequency hearing impairment Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy Abnormal myocardium morphology Asymmetric septal hypertrophy Abnormal renal physiology Abnormal mitral valve morphology Periorbital fullness Gastrointestinal dysmotility Abnormal aortic valve morphology T-wave inversion Miosis Corneal crystals Abnormality of temperature regulation Abnormality of the common coagulation pathway Left ventricular septal hypertrophy Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Tenesmus Unexplained fevers Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Neutropenia ST segment depression Mucosal telangiectasiae Nephrogenic diabetes insipidus Obstructive lung disease Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Impaired temperature sensation Concentric hypertrophic cardiomyopathy Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Increased glomerular filtration rate Progressive visual loss Microcornea Aplasia of the uterus Scarring Erythema Alopecia Slender toe Cat cry Hypoplastic philtrum Primary amenorrhea Acne Childhood-onset truncal obesity Unilateral renal agenesis Macrodontia of permanent maxillary central incisor Prominent eyelashes Hypoplasia of the uterus Abnormality of the ovary Abnormal vagina morphology Hypotrichosis Thick corpus callosum High-pitched cry Frontal balding Chorioretinal dysplasia Narrow philtrum Narrow palm Increased serum testosterone level Facial hirsutism Hemeralopia Aplasia of the vagina Cutis gyrata of scalp Chorioretinal dystrophy Aplasia/Hypoplasia of the fallopian tube Laryngeal stenosis Amenorrhea Ichthyosis Atrial septal defect Atopic dermatitis Underdeveloped nasal alae Anonychia Upslanted palpebral fissure Wide nasal bridge Abnormal perifollicular morphology Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Widow's peak Bifid nasal tip Broad eyebrow Prominent nasal septum Renal agenesis Abnormality of the tongue Cleft palate Abnormal lip morphology Inflammatory abnormality of the skin Thick nasal alae Spinal muscular atrophy Epiphora Palpebral edema Everted lower lip vermilion Long nose Large hands Abnormality of the metacarpal bones Thickened skin Aplasia/Hypoplasia of the skin Sloping forehead Hyperplasia of the maxilla Telecanthus Hypoplasia of the maxilla Sandal gap Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Acrocyanosis Truncal obesity Decreased fetal movement Growth hormone deficiency Aciduria Convex nasal ridge Small nail Pigmentary retinopathy Narrow forehead High myopia Intellectual disability, progressive Open mouth Clumsiness Abnormality of finger Exotropia Abnormality of retinal pigmentation Preauricular skin tag Disproportionate tall stature Abnormality of the hip bone Congenital neutropenia Misalignment of teeth Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Joint stiffness Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Tracheomalacia Hiatus hernia Weak cry Synostosis of carpal bones Subcapsular cataract Thoracic scoliosis Peripheral visual field loss Cutaneous finger syndactyly Posterior subcapsular cataract Spastic paraplegia Gingivitis Tented upper lip vermilion Microglossia Abnormality of the face Vocal cord paralysis Achalasia Sinus bradycardia Reduced bone mineral density Chronic obstructive pulmonary disease Areflexia Neurodegeneration Confusion Dysmetria Abnormality of the foot Hypermetropia Pectus carinatum Mental deterioration Hepatosplenomegaly Umbilical hernia Osteopenia Gait ataxia Prominent forehead Recurrent respiratory infections Inguinal hernia Cerebral atrophy Gliosis Frontal bossing Ataxia Muscle weakness Epicanthus Hepatomegaly Dysarthria Gait disturbance Ventriculomegaly Immunodeficiency Hydrocephalus Intellectual disability, severe Myopathy Cerebellar atrophy Abnormality of the dentition Splenomegaly Progressive cerebellar ataxia Delayed myelination Deviation of the 5th finger Bronchitis Open bite Bowel incontinence Neurodevelopmental delay Femoral bowing Abnormality of the sternum Thickened calvaria Limb dystonia Flat occiput Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Delusions Impaired smooth pursuit Dysostosis multiplex Bowing of the legs Chronic otitis media Dental malocclusion Psychosis Decreased antibody level in blood Hip dysplasia Peripheral demyelination Optic disc pallor Type II diabetes mellitus Pancytopenia Progressive neurologic deterioration Increased intracranial pressure Amblyopia Limb ataxia Hallucinations Spastic gait Narrow palate Recurrent bacterial infections Fixed elbow flexion Multiple carpal ossification centers Abnormality of the helix Joint dislocation Abnormal form of the vertebral bodies Rhizomelia Sparse and thin eyebrow Aortic valve stenosis Spina bifida Bilateral single transverse palmar creases Spina bifida occulta Limb undergrowth Delayed gross motor development Elbow dislocation Spondyloepiphyseal dysplasia Hypoplasia of the ulna Bilateral talipes equinovarus Hallux valgus Pulmonary arterial hypertension Microdontia Short thorax Hyperlordosis Flexion contracture Long philtrum Abnormality of cardiovascular system morphology Severe short stature Conductive hearing impairment Camptodactyly Microtia Wide intermamillary distance Hip dislocation Platyspondyly Pulmonic stenosis Short distal phalanx of finger Delayed eruption of teeth Waddling gait Short femoral neck Limited elbow extension Limited hip extension Shoulder dislocation Frontal upsweep of hair Spinal deformities Abnormality of the carpal bones Decreased hip abduction Knee dislocation Multiple joint dislocation Sclerotic vertebral endplates Flattened epiphysis Narrow vertebral interpedicular distance Intervertebral space narrowing Anisospondyly Tricuspid stenosis Intervertebral disc degeneration Generalized bone demineralization Ulnar bowing Hypoplasia of the capital femoral epiphysis Tibial bowing Abnormality of the elbow Vertebral fusion Thin ribs Arthropathy Short humerus Irregular vertebral endplates Thoracic kyphosis Barrel-shaped chest Coronal cleft vertebrae Short 4th metacarpal Mitral stenosis Disproportionate short-trunk short stature Enlarged joints Small epiphyses Irregular epiphyses Hydrocele testis Spondylolisthesis Angina pectoris Abnormal intestine morphology Clubbing Personality changes Polydipsia Glomerulosclerosis Hemiplegia Abnormality of the hand Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Ischemic stroke Corneal dystrophy Progressive hearing impairment Ventricular tachycardia Diabetes insipidus Lymphedema Palpitations Abnormal lung morphology Subcutaneous nodule Left ventricular hypertrophy Anorexia Hypohidrosis Bradycardia Hyperlipidemia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Aminoaciduria Purpura Impaired vibratory sensation Polyuria Atrial fibrillation Tubular atrophy Xerostomia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Abnormality of the gastrointestinal tract Abnormality of lipid metabolism Oligospermia Large earlobe Supraventricular tachycardia Heat intolerance Peripheral arterial stenosis Clubbing of fingers Abnormal EKG Aortic root aneurysm Anhidrosis Interstitial pulmonary abnormality Emphysema Loss of consciousness Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Wheezing Orthostatic hypotension Telangiectasia of the skin Glomerulopathy Abnormal heart valve morphology Glycosuria Renal tubular acidosis Myocardial infarction Nephrotic syndrome Abnormality of the rib cage Spinocerebellar tract disease in lower limbs Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Anemia Hypoplastic inferior ilia Hypertension Peripheral neuropathy Fever Fatigue Respiratory insufficiency Vomiting Abnormality of the ilium Decreased pulmonary function Congestive heart failure Long ear Synovitis Abnormal echocardiogram Thoracolumbar kyphosis Vacuolated lymphocytes Cranial hyperostosis Abnormality of the gingiva Retinal thinning Generalized abnormality of skin Cerebral dysmyelination Synostosis of joints Oligosacchariduria Spondylolysis Increased vertebral height Increased hepatic glycogen content Diarrhea Renal insufficiency Abnormality of the cardiovascular system Nephropathy Paresthesia Vertigo Stage 5 chronic kidney disease Nausea Tachycardia Hematuria Muscle cramps Malabsorption Abdominal distention Chest pain Sudden cardiac death Syncope Urinary incontinence Hypotension Nausea and vomiting Pruritus Headache Myalgia Arrhythmia Constipation Hyperhidrosis Abdominal pain Hyperkeratosis Dyspnea Carcinoma Cough Proteinuria Abnormality of the nervous system Hypertrophic cardiomyopathy Abnormality of the kidney Developmental regression Skin rash Delayed ability to walk



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