Arthritis, and Microtia

Diseases related with Arthritis and Microtia

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


Top matches:

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

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

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Other less relevant matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low 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 MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6

Low match MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE


Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Low match ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN


The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Low match MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

Top 5 symptoms//phenotypes associated to Arthritis and Microtia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Micrognathia Hearing impairment Flexion contracture Delayed skeletal maturation Abnormal facial shape Low-set ears Failure to thrive Patent ductus arteriosus Narrow mouth High palate Global developmental delay Anemia Short nose Joint stiffness Conductive hearing impairment

Rare Symptoms - Less than 30% cases


Amenorrhea Carious teeth Inguinal hernia Pes planus Umbilical hernia Sparse and thin eyebrow Macrotia Primary amenorrhea Thick vermilion border Intrauterine growth retardation Hypoplasia of the maxilla Limitation of joint mobility Retrognathia Hydronephrosis Hip dislocation Severe short stature Obesity Abnormality of cardiovascular system morphology Kyphosis Neoplasm Short neck Ventricular septal defect Intellectual disability, severe Delayed eruption of teeth Decreased body weight Cleft palate Strabismus Renal dysplasia Abnormality of the dentition Behavioral abnormality Juvenile rheumatoid arthritis Enlarged joints Feeding difficulties Thrombocytopenia Abnormal heart morphology Thin ribs Abnormality of the carpal bones Aortic valve stenosis Growth delay Rheumatoid arthritis Heart murmur Hypothyroidism Midface retrusion Malar flattening Spina bifida Delayed speech and language development Nasal speech Cardiomegaly Lipodystrophy Hyperinsulinemia Abnormality of the cardiovascular system Premature ovarian insufficiency Metaphyseal widening Coxa valga Abnormality of the thorax Insulin resistance Aspiration Multiple joint contractures High pitched voice Premature graying of hair Intracranial hemorrhage Dermal atrophy Aminoaciduria Dental crowding Osteolysis Atherosclerosis Hypogonadotrophic hypogonadism Hyperlipidemia Hypohidrosis Hypergonadotropic hypogonadism Left ventricular hypertrophy Myocardial infarction Acanthosis nigricans Increased bone mineral density Thin skin Hypercholesterolemia Osteoarthritis Relative macrocephaly Hypertriglyceridemia Broad-based gait Narrow chest Cyanosis Sacral meningocele Macrocephaly Skeletal muscle atrophy Hypertension Cataract Pain Sensorineural hearing impairment Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Cardiomyopathy Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Abnormality of the skeletal system Congestive heart failure Convex nasal ridge Hypermetropia Nail dysplasia Growth hormone deficiency Chest pain Hypodontia Hepatic steatosis Thin vermilion border Infertility Delayed puberty Exertional dyspnea Hypotrichosis Dilated cardiomyopathy Alopecia Stroke Sparse hair Hypertrophic cardiomyopathy Carcinoma Osteopenia Dyspnea Proptosis Hypogonadism Osteoporosis Prominent forehead Dementia Prolonged QT interval Aplasia/Hypoplasia of the earlobes Lipoatrophy Flared metaphysis Polyhydramnios Respiratory failure Dysphagia Pretragal ectopia Decreased head circumference Bilateral choanal atresia Mandibulofacial dysostosis Broad finger Acetabular dysplasia Anotia Femoral bowing Choanal atresia Sepsis Downslanted palpebral fissures Lumbar scoliosis Madelung deformity Central hypothyroidism Hypoplasia of the uterus Hypotelorism Hip dysplasia Prominent nose Severe global developmental delay Postnatal growth retardation Clinodactyly Deeply set eye Premature birth Bifid nasal tip Congenital pyloric atresia Lateral clavicle hook Breast hypoplasia Labial hypoplasia Patellar aplasia Hypoplastic labia majora Genu recurvatum Thoracic scoliosis Slender long bone Emphysema Thick lower lip vermilion Cryptorchidism Aplasia of the bladder Underdeveloped nasal alae Abnormality of the stomach Ureterocele Oral mucosal blisters Skin erosion Aplasia cutis congenita Fragile skin Skin vesicle Glomerulosclerosis Abnormality of the outer ear Dehydration Abnormal blistering of the skin Small cerebral cortex Intellectual disability, moderate Scleroderma Ovoid vertebral bodies Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Precocious atherosclerosis Impaired T cell function Small face Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Hyperphosphatemia Arteriosclerosis Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Short clavicles Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Carcinoid tumor Narrow nasal ridge Tapering pointed ends of distal finger phalanges Hypoplastic facial bones Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Prominent scalp veins Aplastic clavicle Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Perisylvian polymicrogyria Purpura Right aortic arch Camptodactyly Highly arched eyebrow Short distal phalanx of finger Thick eyebrow Talipes Genu valgum Pulmonic stenosis Platyspondyly Broad forehead Camptodactyly of finger Hyperlordosis Arthralgia Waddling gait Skeletal dysplasia Kyphoscoliosis Pectus excavatum Long philtrum Talipes equinovarus Brachydactyly Motor delay Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Short metacarpal Wide intermamillary distance Large face Aortic regurgitation Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Spondyloepiphyseal dysplasia Tricuspid regurgitation Cubitus valgus Sparse eyebrow Elbow dislocation Delayed gross motor development Widely spaced teeth Spina bifida occulta Microdontia Joint dislocation Bilateral single transverse palmar creases Rhizomelia Bowing of the long bones Abnormal form of the vertebral bodies Mitral regurgitation Ventricular hypertrophy Pulmonary arterial hypertension Lumbar hyperlordosis Limb undergrowth Vascular skin abnormality Abnormal cortical bone morphology Short thorax Neutropenia Homocystinuria Methylmalonic aciduria Stomatitis Megaloblastic anemia Macrocytic anemia Incoordination Psychosis Pancytopenia Abnormality of the skin Aciduria Lethargy Glossitis Small for gestational age Skin rash Developmental regression Feeding difficulties in infancy Thin upper lip vermilion Acidosis Epicanthus Muscular hypotonia Ataxia Generalized hypotonia Methylmalonic acidemia Hyperhomocystinemia Beaking of vertebral bodies Neurological speech impairment Macroorchidism Abnormality of the ulna Thickened calvaria Chronic otitis media Abnormal vertebral morphology Gingival overgrowth Macroglossia Sleep disturbance Dyskinesia Malabsorption Pectus carinatum Decreased methylcobalamin Coarse facial features Mandibular prognathia Recurrent respiratory infections Splenomegaly Wide nasal bridge Hepatomegaly Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Short femoral neck Limited elbow extension Alcoholism Renal agenesis Bicuspid aortic valve Hypocalcemia Exotropia Amblyopia Broad thumb Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Specific learning disability Chorea Arnold-Chiari malformation Bifid uvula High, narrow palate Hemolytic anemia Iris coloboma Polymicrogyria Bulbous nose Astigmatism Generalized tonic-clonic seizures Short philtrum Attention deficit hyperactivity disorder Schizophrenia Cholelithiasis Blepharophimosis Truncus arteriosus Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Tetany Myelomeningocele Sclerocornea Psoriasiform dermatitis Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Autoimmunity Craniosynostosis Tibial bowing Small epiphyses Knee dislocation Decreased hip abduction Spinal deformities Frontal upsweep of hair Ulnar bowing Flattened epiphysis Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Irregular epiphyses Shield chest Disproportionate short-trunk short stature Shoulder dislocation Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Thoracic kyphosis Irregular vertebral endplates Short humerus Arthropathy Vertebral fusion Multiple joint dislocation Sclerotic vertebral endplates Abnormality of the pinna Hypoplasia of the corpus callosum Abnormality of the kidney Cleft lip Telecanthus Posteriorly rotated ears Recurrent infections Microphthalmia Immunodeficiency Hypertonia Atrial septal defect Hydrocephalus Fever Narrow vertebral interpedicular distance Cognitive impairment Ptosis Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Birth length less than 3rd percentile



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

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