Autoimmunity, and Joint hyperflexibility

Diseases related with Autoimmunity and Joint hyperflexibility

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


Top matches:

Medium match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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Other less relevant matches:

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match EHLERS-DANLOS SYNDROME TYPE 2


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Low match EHLERS-DANLOS SYNDROME TYPE 1


Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Related symptoms:

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia


SOURCES: MESH ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 1

Low match ALDH18A1-RELATED DE BARSY SYNDROME


ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.

ALDH18A1-RELATED DE BARSY SYNDROME Is also known as neurocutaneous syndrome, bicknell type|p5cs deficiency|delta-1-pyrroline 5-carboxylate synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cataract
  • Joint hyperflexibility
  • Hyperextensible skin


SOURCES: ORPHANET MENDELIAN

More info about ALDH18A1-RELATED DE BARSY SYNDROME

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Low match EHLERS-DANLOS SYNDROME TYPE 7A


EHLERS-DANLOS SYNDROME TYPE 7A Is also known as eds viia

Related symptoms:

  • Short stature
  • Muscle weakness
  • Joint hyperflexibility
  • Thin skin
  • Hyperextensible skin


SOURCES: ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7A

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Joint hyperflexibility

Symptoms // Phenotype % cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hyperextensible skin Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Joint hyperflexibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Aortic aneurysm Soft skin Atrophic scars Thin skin Intellectual disability Hernia Seizures Bruising susceptibility Aortic dissection Cataract Dermal atrophy Micrognathia Varicose veins Joint laxity Abnormality of the dentition Pes planus Global developmental delay Hypertension Retinal detachment Dilatation Gastroesophageal reflux Pectus excavatum

Rare Symptoms - Less than 30% cases


Hearing impairment Arthritis Pectus carinatum Congenital diaphragmatic hernia Arachnodactyly Recurrent urinary tract infections Cleft palate Strabismus Tall stature Joint dislocation Muscle weakness Long philtrum Peritonitis Multiple renal cysts Bladder diverticulum Skin vesicle Femoral hernia Atelectasis Abnormal oral cavity morphology Gingivitis Muscular hypotonia Generalized joint laxity Cigarette-paper scars Platybasia Lymphoma Carious teeth Recurrent infections Skin rash Renal hypoplasia Abnormal heart valve morphology Microphthalmia Cutis laxa Hoarse voice Glaucoma Abnormality of the face Hydrocephalus Hypertelorism Vesicoureteral reflux Mitral regurgitation Wide nasal bridge Chronic otitis media Neoplasm Edema Renal insufficiency Asthma Seborrheic dermatitis Choanal atresia Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Hypertensive crisis Arrhinencephaly Impaired T cell function Tetralogy of Fallot Retinal arteriolar tortuosity Anal atresia Long face Abnormal pulmonary valve morphology Anorectal anomaly Tetany Specific learning disability Gastrointestinal hemorrhage Bulbous nose Intestinal malrotation Hypoplasia of the thymus Hypocalcemia Corneal neovascularization Turricephaly Bowel incontinence Acne Hyperthyroidism Foot polydactyly Abnormal aortic arch morphology Overfolded helix Abnormality of the thorax Hand polydactyly Posterior embryotoxon Abnormal lung lobation Cholelithiasis Bipolar affective disorder Polycystic kidney dysplasia Nasal speech Laryngomalacia Aganglionic megacolon Schizophrenia Hypoparathyroidism Patellar dislocation Hypopigmented skin patches Abnormality of the skull Meningocele Truncus arteriosus Abnormal eyelid morphology Purpura Abnormality of dental enamel Chronic obstructive pulmonary disease Dysphasia Spina bifida Abnormality of the uterus Generalized hypotonia Deeply set eye Multiple suture craniosynostosis Macular degeneration Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Chronic kidney disease Abnormality of the genitourinary system Multicystic kidney dysplasia Abnormality of the vasculature Horseshoe kidney Nephrolithiasis Renal dysplasia Abnormality of the genital system Progressive visual loss Gliosis Arnold-Chiari type I malformation Elevated serum creatinine Stage 5 chronic kidney disease Optic nerve dysplasia Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Mild proteinuria Hydrocele testis Bilateral renal hypoplasia Lens luxation Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Nephropathy Confusion Tricuspid atresia Osteopenia Delayed eruption of teeth Pruritus Papule Cough Craniosynostosis Short philtrum Prominent forehead Eczema Recurrent respiratory infections Fever Genu recurvatum Hallux valgus Mitral valve prolapse Occipital myelomeningocele Abnormality of the tonsils Recurrent fractures Skin ulcer Coloboma Sensorineural hearing impairment Abnormality of the kidney Proteinuria Hydronephrosis Reduced visual acuity Myopia Visual impairment Nystagmus Abnormality of the hair Generalized abnormality of skin Paronychia Increased IgE level Dystrophic fingernails Cellulitis Osteomyelitis Eosinophilia Prominent nasal bridge Short neck Attention deficit hyperactivity disorder Osteolysis Abnormal joint morphology Fragile skin Long nose Agenesis of permanent teeth Hypermelanotic macule Urticaria Vasculitis Premature loss of teeth Gingival overgrowth Osteoarthritis Fine hair Blue sclerae Microdontia Joint hypermobility Striae distensae Gingival bleeding Erythema Intestinal perforation Frontal bossing Macrocephaly Skeletal muscle atrophy Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Gingival recession Subarachnoid hemorrhage Premature loss of permanent teeth Palmoplantar cutis laxa Poor wound healing Premature loss of primary teeth Chronic pain Mitral stenosis Periodontitis Scarring Arthralgia Myopathy Coarctation of aorta Redundant skin Systemic lupus erythematosus Venous thrombosis Aortic regurgitation Bronchiectasis Ventricular hypertrophy Full cheeks Heart murmur Pulmonic stenosis Dyspnea Respiratory failure Respiratory distress Fatigue Feeding difficulties Stridor Emphysema Osteoporosis Subglottic stenosis Flexion contracture Pain Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Upper airway obstruction Infantile spasms Premature skin wrinkling Right ventricular hypertrophy Raynaud phenomenon Heart block Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Anteverted nares Short nose Feeding difficulties in infancy Optic atrophy Intellectual disability, mild Behavioral abnormality Atrial septal defect Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Malar flattening Epicanthus Low-set ears Ptosis Cryptorchidism Abnormal facial shape Failure to thrive Splenomegaly Immunodeficiency Neoplasm of the adrenal cortex Narrow mouth Telecanthus Anxiety Myalgia Conductive hearing impairment Polyhydramnios Hypothyroidism Autism Abnormality of cardiovascular system morphology Upslanted palpebral fissure Constipation Patent ductus arteriosus Hypospadias Depressivity Obesity Thrombocytopenia Microcephaly Abnormal large intestine morphology Delayed skeletal maturation Subcutaneous nodule Intracranial hemorrhage Cachexia Delayed gross motor development Narrow palate Lymphedema Telangiectasia Broad thumb Multiple lipomas Nevus Wide nose Dolichocephaly Neurological speech impairment Hypoglycemia Macrotia Cutis marmorata Multiple cafe-au-lait spots Uterine neoplasm Thyroid carcinoma Abdominal wall muscle weakness Subcutaneous hemorrhage Hamartomatous polyposis Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Angina pectoris Hamartoma Abnormality of the optic nerve Arteriovenous malformation Meningioma Capillary hemangioma Lipoma Hashimoto thyroiditis Irregular hyperpigmentation Ureterovesical junction obstruction



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