Autoimmunity, and Camptodactyly of finger

Diseases related with Autoimmunity and Camptodactyly of finger

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


Top matches:

Low match BLAU SYNDROME; BLAUS


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

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

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Other less relevant matches:

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match LIMITED CUTANEOUS SYSTEMIC SCLEROSIS


Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

Low match CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

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 PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Top 5 symptoms//phenotypes associated to Autoimmunity and Camptodactyly of finger

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dehydration Weight loss Hypothyroidism Intellectual disability Seizures Diarrhea Frontal bossing Global developmental delay Glycosuria Fever Arthritis

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Intrauterine growth retardation Motor delay Muscular hypotonia Papule Generalized hypotonia Psychosis Dysphagia Gait disturbance Raynaud phenomenon Abnormal heart morphology Respiratory failure Proptosis Asthma Hepatitis Hypertelorism Scoliosis Flexion contracture Cataract Arthralgia Dysarthria Skin rash Downturned corners of mouth Ketonuria Contractures of the joints of the lower limbs Inflammatory abnormality of the skin Subcutaneous nodule Skin ulcer Rheumatoid arthritis Hypovolemia Abnormality of the upper urinary tract Uveitis Autoimmune antibody positivity Abnormality of the ear Renal tubular dysfunction Hyperglycemia Coma Generalized myoclonic seizures Apraxia Bilateral ptosis Generalized tonic-clonic seizures Neurodevelopmental delay Prominent metopic ridge Streak ovary Anodontia Heart block Nausea and vomiting Decreased serum testosterone level Decreased serum estradiol Hypopigmented skin patches Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Decreased serum insulin-like growth factor 1 Abnormality of skin pigmentation Progressive extrapyramidal movement disorder Pulmonary fibrosis Pulmonary arterial hypertension Gastroesophageal reflux Telangiectasia of the skin Hypoplasia of the fallopian tube Progressive alopecia Mucosal telangiectasiae Joint contracture of the hand Abnormality of the skin Myocardial infarction Insulin-resistant diabetes mellitus Narrow foramen obturatorium Delayed puberty Abnormality of movement Sensory neuropathy Polyneuropathy Triangular face Prominent nose Dental malocclusion Decreased testicular size Amenorrhea Bilateral sensorineural hearing impairment Abnormality of extrapyramidal motor function Fine hair Primary amenorrhea Autoimmune thrombocytopenia Sparse scalp hair Choreoathetosis Hallucinations Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Purpura Hyperlipidemia Premature ovarian insufficiency Sparse eyebrow Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplasia of the uterus Contractures involving the joints of the feet Respiratory insufficiency due to muscle weakness Abnormal bleeding Muscle specific kinase antibody positivity Acrocyanosis Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Single fiber EMG abnormality Primary adrenal insufficiency Ataxia Intellectual disability, severe Retinopathy Peripheral axonal neuropathy Microalbuminuria Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Insulin resistance Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Hashimoto thyroiditis Fatigable weakness Prolonged partial thromboplastin time Ophthalmoplegia Graves disease Strabismus Muscle weakness Ptosis Feeding difficulties Respiratory distress Dyspnea Polyhydramnios Rigidity Proximal muscle weakness Apnea Respiratory tract infection Paralysis Paresthesia Hyperthyroidism Hemolytic anemia Tapered finger Generalized muscle weakness Cyanosis Diplopia Aspiration Easy fatigability Systemic lupus erythematosus Poor suck Ophthalmoparesis Bulbar palsy Abnormality of the immune system Weak cry Hypotrichosis Cognitive impairment Prominent nasal bridge Abdominal pain Clinodactyly Posteriorly rotated ears Dolichocephaly Malabsorption Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Pain Myalgia Macrocephaly Xerostomia Brachydactyly Micrognathia Short stature Pleuritis Oral ulcer Episodic abdominal pain Episodic fever Chest pain Pericarditis Keratoconjunctivitis sicca Elevated erythrocyte sedimentation rate Blurred vision Nephrolithiasis Ventricular hypertrophy Splenomegaly Hepatomegaly Pes cavus Vasculitis Abnormal cranial nerve morphology Joint swelling Optic neuropathy Abnormal joint morphology Increased antibody level in blood Hypercalcemia Eczema Juvenile rheumatoid arthritis Glaucoma Blindness Edema Hypertension Visual impairment Macular edema Synovitis Low-set ears Iritis Abnormal facial shape Nongranulomatous uveitis Intermittent generalized erythematous papular rash Tendonitis Panuveitis Large vessel vasculitis Iridocyclitis Cystoid macular edema Posterior uveitis Anterior uveitis Band keratopathy Granulomatosis Flexion contracture of toe Abducens palsy Kyphosis Osteoporosis Sparse hair Distal tapering of metatarsals Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Widened metacarpal shaft Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Sclerotic cranial sutures Broad metatarsal Babinski sign Protruding ear Mental deterioration High forehead Micropenis Hypogonadism Alopecia Abnormality of metabolism/homeostasis Sensorineural hearing impairment Intellectual disability, mild Dystonia Downslanted palpebral fissures Hyperreflexia Delayed speech and language development High palate Protrusio acetabuli Camptodactyly of toe Brachycephaly Small hand Decreased body weight Split hand Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Hirsutism Gingival overgrowth Bulbous nose Corneal opacity Pes planus Coarse facial features Osteopenia Kyphoscoliosis Thickened skin Knee flexion contracture Generalized hypertrichosis Ankle contracture Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankylosis Hip contracture Osteolysis Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Elevated hemoglobin A1c



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