Intrauterine growth retardation, and Rheumatoid arthritis

Diseases related with Intrauterine growth retardation and Rheumatoid arthritis

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


Top 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 WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Low match LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Low match PARASTREMMATIC DWARFISM


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

Low 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

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Juvenile rheumatoid arthritis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Intrauterine growth retardation and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Scoliosis Anemia Severe short stature Edema Diabetes mellitus Hypothyroidism Recurrent infections Kyphoscoliosis Flexion contracture Thrombocytopenia Arthropathy Sensorineural hearing impairment Seizures Hearing impairment Failure to thrive

Rare Symptoms - Less than 30% cases


Skin rash Retinopathy Otitis media Hemolytic anemia Inflammatory abnormality of the skin Neutropenia Autoimmune hemolytic anemia Nephritis Abnormality of the thyroid gland Vasculitis Thyroiditis Purpura Abnormality of skin pigmentation Fatigue Genu valgum Leukopenia Lymphadenopathy Diarrhea Leukocytosis Immunodeficiency Osteolysis Osteoporosis Skeletal dysplasia Arthralgia Platyspondyly Brachydactyly Gingivitis Autoimmunity Alopecia Nausea and vomiting Abnormal intestine morphology Postnatal growth retardation Recurrent skin infections Abnormal thrombocyte morphology Abnormality of retinal pigmentation Cognitive impairment Gingival overgrowth Malnutrition Pigmentary retinopathy Abnormal granulocyte morphology Global developmental delay Generalized hypotonia Dilatation Blindness Visual impairment Abnormal facial shape Macrocephaly Synovitis Sclerotic vertebral endplates Enlarged epiphyses Methylmalonic acidemia Flattened epiphysis Spondyloepiphyseal dysplasia Abnormality of the knee Joint swelling Metaphyseal widening Genu varum Short long bone Coxa vara Decreased cervical spine mobility Morbus Scheuermann Enlarged interphalangeal joints Nail dystrophy Chronic diarrhea Bowing of the long bones Postural instability Nausea Malabsorption Meningitis Abdominal pain Enlargement of the proximal femoral epiphysis Joint dislocation Increased intracranial pressure Vomiting Short neck Reduced bone mineral density Enlarged metacarpophalangeal joints Osteoarthritis Abnormal form of the vertebral bodies Abnormality of the foot Interphalangeal joint contracture of finger Hematuria Elevated C-reactive protein level Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Bifid uvula Renal cyst Inflammatory abnormality of the eye Gout Nephropathy Abnormality of the kidney Proteinuria Abnormality of neutrophils Pseudopapilledema Polydactyly Hypertension Hyperuricemia Elevated serum creatinine Waddling gait Elevated erythrocyte sedimentation rate Cachexia Urticaria Camptodactyly of finger Joint stiffness Camptodactyly Difficulty walking Gait disturbance Delayed closure of the anterior fontanelle Progressive sensorineural hearing impairment Abnormal joint morphology Amyloidosis Pain Muscle weakness Velopharyngeal insufficiency Uveitis Overgrowth Autoimmune thrombocytopenia Premature birth Malar rash Ileus Immune dysregulation Villous atrophy Antiphospholipid antibody positivity Ketoacidosis Complement deficiency Serositis Intractable diarrhea Abnormality of the coagulation cascade Hyperglycemia Erythroderma Hepatomegaly Eosinophilia Type I diabetes mellitus Cardiac arrest Pancreatic hypoplasia Pleuritis Frontal bossing Hashimoto thyroiditis Aseptic necrosis Increased antibody level in blood Abnormality of coagulation Glomerulonephritis Systemic lupus erythematosus Epiphyseal stippling Gangrene Secretory diarrhea Cutaneous photosensitivity Psychosis Memory impairment Abnormality of the skin Raynaud phenomenon Midface retrusion Antinuclear antibody positivity Fever Nephrotic syndrome Pericarditis Hyperkeratosis Optic disc pallor Full cheeks Delayed eruption of teeth Pallor Papule Conductive hearing impairment Intestinal polyp Decreased body weight Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Migraine Thoracolumbar scoliosis Thoracic kyphosis Hypertrichosis Myalgia Hepatitis Axenfeld anomaly Eczema Sepsis Splenomegaly Proptosis Hepatosplenomegaly Cleft palate Enlarged labia minora Angiokeratoma EEG abnormality Abnormal anterior chamber morphology Gingival fibromatosis Telangiectasia of the skin Abnormality of dental enamel Narrow palate Generalized hirsutism Telangiectasia Scleroderma Generalized osteoporosis Recurrent gram-negative bacterial infections Synophrys Joint hypermobility Retinal degeneration Arachnodactyly Astigmatism Smooth philtrum Joint hyperflexibility Delayed puberty Severe global developmental delay Iris coloboma Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Short philtrum Stroke Nyctalopia Wide mouth Thick eyebrow Retinal dystrophy Protruding ear Prominent nose High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Progressive visual loss Convex nasal ridge Aciduria Growth hormone deficiency Short metacarpal Thick vermilion border Hypoplasia of the maxilla Microcornea Single transverse palmar crease Tapered finger Highly arched eyebrow Retinal detachment Small hand High, narrow palate Paralysis Respiratory tract infection Open mouth High palate Ventricular septal defect Abnormality of the skeletal system Downslanted palpebral fissures Optic atrophy Myopia Depressed nasal bridge Motor delay Ptosis Cardiomyopathy Cryptorchidism Cataract Muscular hypotonia Strabismus Micrognathia Nystagmus Hypertelorism Microcephaly Respiratory distress Behavioral abnormality Feeding difficulties in infancy Mandibular prognathia Intellectual disability, moderate Joint laxity Neonatal hypotonia Thin upper lip vermilion Pes planus Retrognathia Macrotia Gastroesophageal reflux Reduced visual acuity Malar flattening Rod-cone dystrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Visual loss Pectus excavatum Obesity Hernia Microphthalmia Lumbar hyperlordosis Clumsiness Recurrent staphylococcal infections Narrow palm Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Hemeralopia Cat cry Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Hypoplastic philtrum Slender toe Thick hair Epistaxis Severe periodontitis Decreased platelet glycoprotein IIb-IIIa Rectal abscess Recurrent bacterial skin infections Peritonitis Periodontitis Cellulitis Recurrent bacterial infections Abnormal bleeding Coarse facial features Bruising susceptibility Confusion Pneumonia Intellectual disability, severe Osteolysis involving bones of the upper limbs Osteolysis involving bones of the feet Subcutaneous nodule Corneal opacity Iris atrophy Tapetoretinal degeneration Tall stature Reduced number of teeth Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Laryngomalacia Disproportionate tall stature Venous thrombosis Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Exotropia Long eyelashes Cerebral hemorrhage Truncal obesity Recurrent aphthous stomatitis Vocal cord paralysis 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 Facial hypotonia Microglossia Abnormality of the hip bone Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Retrobulbar optic neuritis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Leukoencephalopathy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more