Autoimmunity, and Arachnodactyly

Diseases related with Autoimmunity and Arachnodactyly

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


Top matches:

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 PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

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Other less relevant matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match HAIM-MUNK SYNDROME


Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

HAIM-MUNK SYNDROME Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|cochin jewish disorder|keratosis palmoplantaris with p

Related symptoms:

  • Hyperkeratosis
  • Pes planus
  • Arachnodactyly
  • Palmoplantar keratoderma
  • Palmoplantar hyperkeratosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAIM-MUNK SYNDROME

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Low match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Top 5 symptoms//phenotypes associated to Autoimmunity and Arachnodactyly

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Intellectual disability Micrognathia Microcephaly Recurrent infections Malar flattening Splenomegaly Visual impairment Cataract Carious teeth Intrauterine growth retardation Pain Pes planus Hypertelorism Feeding difficulties Hearing impairment

Rare Symptoms - Less than 30% cases


Anemia High palate Obesity Severe periodontitis Depressed nasal bridge Hepatomegaly Downslanted palpebral fissures Vomiting Diarrhea Intellectual disability, mild Thrombocytopenia Hepatitis Hypocalcemia Abnormal heart morphology Talipes equinovarus Dystrophic toenail Strabismus Failure to thrive Atrial septal defect Hypoplastic toenails Nystagmus Abnormality of the immune system Hypertension Systemic lupus erythematosus Hyperkeratosis Polyhydramnios Abnormality of the fingernails Low anterior hairline Lymphedema Short philtrum Cholelithiasis Asthma Palmoplantar keratoderma Cerebellar hypoplasia Stage 5 chronic kidney disease Polycystic kidney dysplasia Delayed speech and language development Umbilical hernia Generalized hypotonia Erythema Joint hyperflexibility Joint laxity Arthritis Paresthesia Joint hypermobility Tapered finger Muscle weakness Inguinal hernia Mitral regurgitation Subarachnoid hemorrhage Abnormality of the dentition Periodontitis Dilatation Neoplasm Chronic pain Edema Thin skin Hyperthyroidism Nail dystrophy Malabsorption Hyperpigmentation of the skin Fever Anorexia Nail dysplasia Dysphagia Abnormality of skin pigmentation Respiratory distress Cachexia Abnormal intestine morphology Fatigable weakness Hypokalemia Thromboembolism Clubbing of fingers Occipital myelomeningocele Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Generalized hyperpigmentation Hypoalbuminemia Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Respiratory failure Clubbing Dysarthria Weight loss Macrocephaly Abdominal pain Poor suck Generalized muscle weakness Type 2 muscle fiber atrophy Cyanosis Psychosis Diplopia Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Rheumatoid arthritis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Ophthalmoparesis Bulbar palsy Myositis Raynaud phenomenon Glycosuria Acrocyanosis Weak cry Hashimoto thyroiditis Hemolytic anemia Ophthalmoplegia Alopecia Acetylcholine receptor antibody positivity Dyspnea Fatigue Primary adrenal insufficiency Rigidity Single fiber EMG abnormality Muscle specific kinase antibody positivity Proximal muscle weakness Generalized hypotonia due to defect at the neuromuscular junction Apneic episodes precipitated by illness, fatigue, stress Abnormality of the thymus Sudden episodic apnea Decreased miniature endplate potentials Hyperacusis Apnea Pure red cell aplasia Respiratory tract infection Paralysis Arthrogryposis multiplex congenita Furrowed tongue Amblyopia Dystrophic fingernails Portal hypertension Congenital hepatic fibrosis Cholangitis Enlarged kidney Dilatation of the cerebral artery Disproportionate tall stature Cerebral hemorrhage Tricuspid regurgitation Aortic aneurysm Chronic kidney disease Hepatic cysts Aortic regurgitation Hepatic fibrosis Nephrolithiasis Recurrent urinary tract infections Mitral valve prolapse Renal cyst High, narrow palate Hematuria Stroke Pancreatic cysts Tricuspid valve prolapse Polydactyly Wide nose Abnormal corpus callosum morphology Slender finger Sandal gap Long eyelashes Sparse scalp hair Thick lower lip vermilion Small nail Dandy-Walker malformation Short distal phalanx of finger Colonic diverticula Thick eyebrow Wide mouth Thin upper lip vermilion Coarse facial features Absent speech Hypoplasia of the corpus callosum Anteverted nares Cerebral berry aneurysm Abdominal aortic aneurysm Abnormality of the kidney Headache Intestinal polyposis Thick nail Astigmatism Joint stiffness Mandibular prognathia Reduced visual acuity Cognitive impairment Congenital palmoplantar keratosis Tapering pointed ends of distal finger phalanges Recurrent bacterial skin infections Osteolytic defects of the phalanges of the hand Ectopia lentis Palmoplantar hyperkeratosis Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Tricuspid atresia Uveitis Syndactyly Dysmetria Renal insufficiency Minimal change glomerulonephritis Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Narrow forehead Esotropia Polymicrogyria Proteinuria Ectopia pupillae Cerebral atrophy Cerebellar atrophy Spasticity Growth delay Myopic astigmatism Posterior synechiae of the anterior chamber Iris atrophy Homocystinuria Abnormal pupil morphology Abnormality of the tonsils Bowel incontinence Multiple suture craniosynostosis Pruritus Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Dehydration Convex nasal ridge Hirsutism Dry skin Genu valgum Papule Abnormal lung morphology Skin rash Elevated hepatic transaminase Hepatosplenomegaly High forehead Proptosis Prominent forehead Recurrent respiratory infections Abnormality of metabolism/homeostasis Inflammatory abnormality of the skin Abnormality of retinal pigmentation Intellectual disability, severe Aplasia/Hypoplasia of the skin Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the hip bone Skin ulcer Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Reduced bone mineral density Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Short nose Alveolar bone loss around teeth Diffuse telangiectasia Osteoarthritis Hyperextensible skin Cutis laxa Osteolysis Joint dislocation Vasculitis Hoarse voice Gingival overgrowth Tall stature Fine hair Urticaria Blue sclerae Microdontia Bruising susceptibility Scarring Arthralgia Osteoporosis Hernia Flexion contracture Dermal atrophy Hypermelanotic macule Atrophy of alveolar ridges Generalized joint laxity Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Mitral stenosis Gingivitis Agenesis of permanent teeth Soft skin Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Atrophic scars Crusting erythematous dermatitis Recurrent cystitis Abnormal aortic arch morphology Dysphasia Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Acne Meningocele Chronic otitis media Overfolded helix Abnormality of the thorax Hand polydactyly Nasal speech Laryngomalacia Schizophrenia Hypopigmented skin patches Abnormality of the skull Truncus arteriosus Abnormality of dental enamel Abnormality of the pharynx Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormal aortic valve morphology Abnormal eyelid morphology Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Purpura Spina bifida Muscular hypotonia Behavioral abnormality Constipation Patent ductus arteriosus Hypospadias Depressivity Abnormality of cardiovascular system morphology Microphthalmia Immunodeficiency Long philtrum Hydrocephalus Glaucoma Short neck Ventricular septal defect Optic atrophy Wide nasal bridge Epicanthus Low-set ears Cryptorchidism Cleft palate Upslanted palpebral fissure Autism Aganglionic megacolon Long face Choanal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Bulbous nose Anal atresia Narrow mouth Prominent nasal bridge Attention deficit hyperactivity disorder Feeding difficulties in infancy Telecanthus Anxiety Myalgia Conductive hearing impairment Gastroesophageal reflux Hypothyroidism Thick nasal alae



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