Arthritis, and Macroglossia

Diseases related with Arthritis and Macroglossia

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


Top matches:

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 CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

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Other less relevant matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low 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

Low match GENERALIZED PUSTULAR PSORIASIS


Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

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 MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

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

Top 5 symptoms//phenotypes associated to Arthritis and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Seizures Myopia Hepatosplenomegaly Malar flattening Muscle weakness Midface retrusion Umbilical hernia Mandibular prognathia Macrotia Scoliosis Kyphosis Hepatomegaly Abnormality of the dentition Splenomegaly Inguinal hernia Sensorineural hearing impairment Skin rash

Rare Symptoms - Less than 30% cases


Psychosis Ataxia Paresthesia Pancytopenia Generalized hypotonia Muscular hypotonia Global developmental delay Growth abnormality Cataract Heart murmur Thick lower lip vermilion Widely spaced teeth Cleft palate Long fingers Anxiety Micrognathia Hyperhidrosis Depressivity Frontal bossing Anteverted nares Tall stature Pectus excavatum Retinal detachment Arthropathy Glossoptosis Exostoses Pierre-Robin sequence Dysostosis multiplex Genu valgum Hernia Broad forehead Neurological speech impairment Chronic otitis media Gingival overgrowth Skeletal muscle atrophy Fever Anemia Pain Microtia Recurrent infections Recurrent respiratory infections Delayed skeletal maturation Failure to thrive Behavioral abnormality Delayed speech and language development Hypertelorism Thickened calvaria Intellectual disability, mild Thrombocytopenia Erythema Short stature Growth delay Osteopenia Flexion contracture Babinski sign Abnormality of the skeletal system Epicanthus Talipes equinovarus Edema Depressed nasal bridge Thoracolumbar kyphosis Femoral bowing Vacuolated lymphocytes Abnormality of the sternum Bronchitis Limb dystonia Abnormality of the helix Aseptic necrosis Abnormal cornea morphology Spondylolisthesis Abnormal echocardiogram Synovitis Severe sensorineural hearing impairment Abnormality of the rib cage Patellar dislocation Delusions Impaired smooth pursuit Hydrocele testis Reduced ejection fraction Craniofacial hyperostosis Bowing of the long bones Neurodevelopmental delay Neurodegeneration Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Highly arched eyebrow Peripheral demyelination Thick eyebrow Retinal degeneration Confusion Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Hip dysplasia Optic disc pallor Bowel incontinence Low anterior hairline Open bite Bowing of the legs Flat occiput Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Narrow palate Spastic gait Type II diabetes mellitus Hallucinations Limb ataxia Amblyopia Abnormality of the gingiva Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Cranial hyperostosis Osteomyelitis Long ear Abnormal metacarpal morphology Thin upper lip vermilion Acidosis Abnormal heart morphology Feeding difficulties High palate Low-set ears Skeletal muscle hypertrophy Myoclonus Abnormal vitreous humor morphology Developmental regression Spondyloepiphyseal dysplasia Mitral valve prolapse Bifid uvula Joint hypermobility Arachnodactyly Retinopathy Glaucoma Long philtrum Feeding difficulties in infancy Small for gestational age Premature osteoarthritis Homocystinuria Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Methylmalonic acidemia Methylmalonic aciduria Lethargy Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Incoordination Abnormality of the skin Aciduria Neutropenia Enlarged epiphyses Cleft soft palate Retinal thinning Abnormality of the ilium Headache Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypoplastic inferior ilia Nausea Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Nail dystrophy Nail dysplasia Vitreoretinopathy Periostitis Abnormal joint morphology Epiphyseal dysplasia High myopia Platyspondyly Abnormality of the eye Oligoarthritis Geographic tongue Palmoplantar pustulosis Asthenia Epidermal acanthosis Neutrophilia Chills Cholangitis Furrowed tongue Parakeratosis Pustule Respiratory tract infection Leukocytosis Psoriasiform dermatitis Corneal opacity Stiff skin Mental deterioration Pes valgus Hypertension Neoplasm Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the patella Diabetes mellitus Constrictive median neuropathy Short 1st metacarpal Short femur Short tibia Fibular hypoplasia Short humerus Prolonged neonatal jaundice Fatigue Hypertrophic cardiomyopathy Metatarsus adductus Generalized hirsutism Impotence Large hands Acne Sleep apnea Cerebral palsy Acanthosis nigricans Abnormality of the fingernails Hoarse voice Synophrys Thickened skin Mitral regurgitation Migraine Full cheeks Tapered finger Wide nose Long face Hallux valgus Hypoplasia of the ulna Spinal canal stenosis Dyskinesia Large face Abnormal cortical bone morphology Beaking of vertebral bodies Macroorchidism Abnormality of the ulna Abnormal vertebral morphology Sleep disturbance Thick vermilion border Anterior beaking of lumbar vertebrae Malabsorption Carious teeth Joint stiffness Pes planus Short nose Wide nasal bridge Abnormal facial shape Vascular skin abnormality Abnormality of amino acid metabolism Short middle phalanx of finger Postaxial hand polydactyly Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Hydrops fetalis Short phalanx of finger Abnormality of the ribs Limb undergrowth Aspartylglucosaminuria Short foot Postaxial polydactyly Hirsutism Talipes Jaundice Polydactyly Severe short stature Brachydactyly Generalized hyperpigmentation Palpebral edema Skeletal dysplasia Flexion contracture of toe Nystagmus Adipose tissue loss Finger swelling Episcleritis Panniculitis Erythema nodosum Hypochromic anemia Generalized lipodystrophy Spasticity Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Rimmed vacuoles Basal ganglia calcification Microcytic anemia Strabismus Cognitive impairment Hypermelanotic macule Myopathy Kyphoscoliosis Gait ataxia Prominent forehead Areflexia Cerebral atrophy Immunodeficiency Cerebellar atrophy Intellectual disability, severe Motor delay Hydrocephalus Short neck Ventriculomegaly Gait disturbance Optic atrophy Macrocephaly Dysarthria Hyperreflexia Elevated erythrocyte sedimentation rate Increased antibody level in blood Joint swelling Pheochromocytoma Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Anterior hypopituitarism Broad jaw Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Macrodactyly Abnormality of reproductive system physiology Glucose intolerance Cardiomegaly Lipodystrophy Conjunctivitis Elbow flexion contracture Lymphopenia Bone pain Hyperpigmentation of the skin Hypertriglyceridemia Prominent nose Cortical diaphyseal thickening of the upper limbs Inability to walk Lymphadenopathy Camptodactyly of finger Scarring Abnormality of the liver Elevated hepatic transaminase Arrhythmia Congestive heart failure Cystathioninemia



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