Failure to thrive, and Rheumatoid arthritis

Diseases related with Failure to thrive and Rheumatoid arthritis

In the following list you will find some of the most common rare diseases related to Failure to thrive and Rheumatoid arthritis that can help you solving undiagnosed cases.

Top matches:

High match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

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

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Other less relevant matches:

High match FARBER DISEASE

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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

Medium match IDIOPATHIC ACHALASIA

Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.

IDIOPATHIC ACHALASIA Is also known as idiopathic achalasia of esophagus|achalasia cardia|primary achalasia

Related symptoms:

  • Pain
  • Dysphagia
  • Vomiting
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about IDIOPATHIC ACHALASIA

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Top 5 symptoms//phenotypes associated to Failure to thrive and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Edema Anemia Scoliosis Juvenile rheumatoid arthritis Neutropenia Small for gestational age Weight loss Fever Thrombocytopenia High palate Kyphoscoliosis Ataxia Generalized hypotonia Global developmental delay Skin rash Flexion contracture Sensorineural hearing impairment Diabetes mellitus Retinopathy

Rare Symptoms - Less than 30% cases

Malabsorption Respiratory distress Micrognathia Cough Hypertelorism Microcephaly Weak cry Laryngomalacia Hoarse voice Irritability Nystagmus Motor delay Strabismus Flexion contracture of toe Macular edema Joint swelling Skin ulcer Subcutaneous nodule Autoimmunity Camptodactyly Glaucoma Blindness Vomiting Dysphagia Dementia Behavioral abnormality Rod-cone dystrophy Otitis media Alopecia Chronic diarrhea Depressivity Recurrent infections Dilatation Diarrhea Delayed speech and language development Recurrent skin infections Hypothyroidism Cryptorchidism Hypertension Gastroesophageal reflux Genu valgum Clumsiness Mandibular prognathia Malar flattening Cerebellar atrophy Myopathy Short neck Ptosis Postnatal growth retardation Bronchitis Visual impairment Muscular hypotonia Incoordination Telangiectasia Abnormality of retinal pigmentation Abnormality of skin pigmentation Abnormality of the skin Aciduria Feeding difficulties in infancy Epicanthus Thin upper lip vermilion Pigmentary retinopathy Cataract Cubitus valgus Granulocytopenia Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Thick hair Congenital neutropenia Narrow nasal bridge Hyperplasia of the maxilla Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Laryngeal stenosis Precocious puberty Short metatarsal Bull's eye maculopathy Subcapsular cataract Celiac disease Facial hypotonia Iris atrophy Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Tapetoretinal degeneration Microglossia Gingivitis Posterior subcapsular cataract Venous thrombosis Hiatus hernia Peripheral visual field loss Macrodontia Thoracic scoliosis Reduced number of teeth Sandal gap Leukopenia Joint hyperflexibility High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Joint hypermobility Retinal degeneration Arachnodactyly Astigmatism Smooth philtrum Delayed eruption of teeth Retinal detachment Delayed puberty Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Prominent nasal bridge Short philtrum Stroke Nyctalopia Wide mouth Small hand Highly arched eyebrow Cutis gyrata of scalp High myopia Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Gingival overgrowth Exotropia Long eyelashes Tall stature Open mouth Lumbar hyperlordosis Decreased fetal movement Tapered finger Mitral valve prolapse Narrow forehead Progressive visual loss Convex nasal ridge Growth hormone deficiency Prominent nose Short metacarpal Hypoplasia of the maxilla Microcornea Single transverse palmar crease Chorioretinal dystrophy High-pitched cry Hemeralopia Falls Generalized-onset seizure Bradykinesia Neuronal loss in central nervous system Brain atrophy Chorea Gliosis Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Abnormality of movement Progressive neurologic deterioration Infertility Abnormality of eye movement Abnormality of the cerebral white matter Mental deterioration Aggressive behavior Anxiety Rigidity Gait ataxia Hyperactivity Myoclonus Type II diabetes mellitus Broad-based gait Ventriculomegaly Head tremor Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Upper limb undergrowth Involuntary movements Restlessness Cerebellar vermis atrophy Muscle fibrillation Hypokinesia Akinesia Obsessive-compulsive behavior Personality changes Slurred speech Hyperkinesis Schizophrenia Dystonia Gait disturbance Narrow palm Pallor Xerostomia Keratoconjunctivitis sicca Adrenal insufficiency Oral-pharyngeal dysphagia Aspiration Asthma Chest pain Hyperkeratosis Conductive hearing impairment Pain Keratoconjunctivitis Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum Protruding ear Chorioretinal dysplasia Narrow philtrum Achalasia Brachydactyly Tremor Thoracic kyphosis Dysarthria Hyperreflexia Cognitive impairment Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Thoracolumbar scoliosis Scleroderma Severe short stature Malnutrition Cachexia Abnormal intestine morphology Bowing of the long bones Postural instability Nausea Nausea and vomiting Platyspondyly Nail dystrophy Abdominal pain Paralysis Retrognathia Respiratory tract infection Pulmonary fibrosis Lethargy Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Nonimmune hydrops fetalis Pancytopenia Decreased muscle mass Muscle weakness Psychosis Abnormality of vision Spontaneous abortion Hydrops fetalis Decreased liver function Ascites Nephropathy Corneal opacity Joint stiffness Microtia Developmental regression Abnormality of the eye Deeply set eye Intellectual disability, profound Underdeveloped nasal alae Dental malocclusion Flat face Talipes Arthrogryposis multiplex congenita Hip dislocation Blepharophimosis Telecanthus Low-set ears Wide nasal bridge Feeding difficulties Narrow mouth Prominent forehead Inguinal hernia Long philtrum Short nose Hypertonia Abnormal heart morphology Acidosis Talipes equinovarus Macrocytic anemia Hepatosplenomegaly Knee flexion contracture Hyperhomocystinemia Abnormal cranial nerve morphology Glossitis Uveitis Optic neuropathy Abnormal joint morphology Abnormality of the ear Increased antibody level in blood Hypercalcemia Vasculitis Decreased methylcobalamin Synovitis Inflammatory abnormality of the skin Eczema Papule Camptodactyly of finger Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Methylmalonic acidemia Cystoid macular edema Jaundice Nongranulomatous uveitis Arthralgia Osteoporosis Recurrent respiratory infections Splenomegaly Megaloblastic anemia Respiratory insufficiency Hepatomegaly Stomatitis Methylmalonic aciduria Intermittent generalized erythematous papular rash Abducens palsy Tendonitis Panuveitis Large vessel vasculitis Iritis Iridocyclitis Posterior uveitis Anterior uveitis Band keratopathy Granulomatosis Homocystinuria Joint contracture of the hand Spina bifida occulta Intellectual disability, moderate Pyoderma Growth delay Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Thymoma Depressed nasal bridge Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Hypertrichosis Cellulitis Osteomyelitis Chronic otitis media Abnormal facial shape Myopia Decreased body weight Visual loss Joint laxity Neonatal hypotonia Pes planus Peripheral neuropathy Macrotia Full cheeks Reduced visual acuity Cerebellar hypoplasia Clinodactyly of the 5th finger Pectus excavatum Intrauterine growth retardation Obesity Hernia Microphthalmia Optic disc pallor Cardiomyopathy Ventricular septal defect Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Optic atrophy Encephalitis Hypopigmented skin patches Adducted thumb Trismus Neoplasm Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Overbite Dimple chin Breech presentation Malignant hyperthermia Fatigue Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Pterygium Nasal speech Enlarged labia minora Axenfeld anomaly Conjunctivitis Decreased antibody level in blood Recurrent bacterial infections Hypocalcemia Recurrent pneumonia Meningitis Lymphopenia Sinusitis Recurrent urinary tract infections Abnormal lung morphology Hepatitis Sepsis Immunodeficiency Generalized hirsutism Narrow palate Abnormality of dental enamel Osteolysis Telangiectasia of the skin Pneumonia Encephalopathy Gingival fibromatosis Abnormal anterior chamber morphology Angiokeratoma Oral motor hypotonia


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