Autoimmunity, and Tapered finger

Diseases related with Autoimmunity and Tapered finger

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


Top matches:

Medium 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

Medium 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 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

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Other less relevant matches:

Low 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

Low 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 BASAN SYNDROME


Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Low match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Low match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Tapered finger

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Cataract Malar flattening Ptosis Recurrent infections Skin rash Depressed nasal bridge Camptodactyly Nail dystrophy Micrognathia Palmoplantar keratoderma Intellectual disability, mild Abnormality of the dentition Hypertelorism Hypermelanotic macule Global developmental delay Sensorineural hearing impairment Strabismus Erythema Microcephaly Muscular hypotonia Carious teeth Splenomegaly Arachnodactyly Hyperkeratosis Thin skin

Rare Symptoms - Less than 30% cases


High forehead Abnormality of the fingernails Hypocalcemia Abnormal aortic valve morphology Lymphedema Papule Skin vesicle Weight loss Obesity Dry skin Alopecia Diarrhea Abnormality of the hair Laryngomalacia Protruding ear Scoliosis Overfolded helix Joint hyperflexibility Scarring Arthritis Umbilical hernia Inguinal hernia Flexion contracture Hyperhidrosis Thrombocytopenia Single transverse palmar crease Edema Abnormal blistering of the skin Epidermal acanthosis Thickened skin Intellectual disability, severe Short nose Brachydactyly Vomiting Pruritus Glaucoma Long philtrum Upslanted palpebral fissure Macrocephaly Polyhydramnios Narrow mouth Wide nasal bridge Systemic lupus erythematosus Generalized hirsutism Mandibular prognathia Hyperthyroidism Epicanthus Abnormality of the immune system Gastroesophageal reflux Thin upper lip vermilion Low-set ears Muscle weakness Hepatitis Cryptorchidism Patent ductus arteriosus Hepatomegaly Anemia Pain Neoplasm Asthma Abnormality of cardiovascular system morphology Midface retrusion Failure to thrive Thin vermilion border Paresthesia Cutaneous photosensitivity Hypospadias Hydrocephalus Behavioral abnormality Cholelithiasis Atrial septal defect Chronic otitis media Hand polydactyly Turricephaly Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Bipolar affective disorder Abnormality of the thorax Abnormal lung lobation Posterior embryotoxon Foot polydactyly Bowel incontinence Dysphasia Acne Polycystic kidney dysplasia Specific learning disability Nasal speech Short philtrum Gastrointestinal hemorrhage Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Renal hypoplasia Bulbous nose Choanal atresia Long face Aganglionic megacolon Anal atresia Spina bifida Prominent nasal bridge Abnormality of dental enamel Attention deficit hyperactivity disorder Immunodeficiency Feeding difficulties in infancy Telecanthus Purpura Anxiety Myalgia Conductive hearing impairment Hypopigmented skin patches Schizophrenia Hypothyroidism Autism Constipation Depressivity Microphthalmia Abnormal eyelid morphology Tricuspid atresia Varicose veins Nephritis Posteriorly rotated ears Cerebral atrophy Erythrocyte cylindruria Craniopharyngioma Elliptocytosis Microscopic hematuria Increased number of teeth Glomerulopathy Abnormality of the metaphysis Microtia Hematuria Thick vermilion border Stage 5 chronic kidney disease Proteinuria Renal insufficiency Anteverted nares Myopia Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Brachycephaly Congenital cataract Generalized hyperkeratosis Broad eyebrow Branchial cyst Severe postnatal growth retardation Pulmonary artery stenosis Ankle contracture Self-injurious behavior Knee flexion contracture Dental crowding Finger syndactyly Craniofacial asymmetry Broad philtrum Smooth philtrum Shallow orbits Arnold-Chiari type I malformation Pericarditis Delayed cranial suture closure Mild short stature Radioulnar synostosis Tented upper lip vermilion Sparse scalp hair Flat face Diffuse palmoplantar keratoderma Hypergranulosis Atelectasis Arrhinencephaly Talipes equinovarus Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Platybasia Occipital myelomeningocele Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Abnormality of the tonsils Syndactyly Abnormality of the testis Adermatoglyphia Irregular hyperpigmentation Macule Scaling skin Palmoplantar hyperkeratosis Neoplasm of the skin Abnormality of the nail Hypertrichosis Corneal opacity Diabetes mellitus Cutaneous syndactyly of toes Clinodactyly Amniotic constriction ring Aplasia cutis congenita Milia Epiphora Cutaneous syndactyly Abnormal dermatoglyphics Hypohidrosis Interphalangeal joint contracture of finger Ectodermal dysplasia Short neck Depressed nasal ridge Ventricular septal defect Abnormal intestine morphology Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypoalbuminemia Hypokalemia Cachexia Hyperpigmentation of the skin Thromboembolism Anorexia Nail dysplasia Abnormality of skin pigmentation Malabsorption Abdominal pain Fatigue Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hyperpigmentation Xerostomia Acetylcholine receptor antibody positivity Hamartomatous polyposis Osteoporosis Hernia Dilatation Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Stomach cancer Abnormality of the vasculature Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Generalized hypotonia due to defect at the neuromuscular junction Apneic episodes precipitated by illness, fatigue, stress Pes planus Apnea Psychosis Cyanosis Generalized muscle weakness Hemolytic anemia Ophthalmoplegia Arthrogryposis multiplex congenita Paralysis Respiratory tract infection Proximal muscle weakness Aspiration Rigidity Dyspnea Respiratory failure Respiratory distress Dysphagia Fever Dysarthria Feeding difficulties Diplopia Respiratory insufficiency due to muscle weakness Sudden episodic apnea Acrocyanosis Decreased miniature endplate potentials Hyperacusis Pure red cell aplasia Abnormality of the thymus EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Myositis Raynaud phenomenon Hashimoto thyroiditis Easy fatigability Primary adrenal insufficiency Fatigable weakness Weak cry Glycosuria Bulbar palsy Ophthalmoparesis Rheumatoid arthritis Poor suck Arthralgia Joint laxity Optic atrophy Dehydration Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Abnormality of retinal pigmentation Abnormal lung morphology Inflammatory abnormality of the skin Generalized hypotonia Low posterior hairline Convex nasal ridge Reduced bone mineral density Hirsutism Genu valgum Elevated hepatic transaminase Hepatosplenomegaly Proptosis Prominent forehead Recurrent respiratory infections Abnormality of metabolism/homeostasis Recurrent pneumonia Psoriasiform dermatitis Delayed speech and language development White forelock Intrauterine growth retardation Cleft palate Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear Concave nasal ridge Osteomyelitis Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Visual impairment High palate Joint hypermobility Vasculitis Atrophic scars Agenesis of permanent teeth Urticaria Dermal atrophy Hyperextensible skin Cutis laxa Osteolysis Joint dislocation Hoarse voice Fragile skin Gingival overgrowth Tall stature Mitral regurgitation Osteoarthritis Fine hair Blue sclerae Microdontia Bruising susceptibility Long nose Abnormal joint morphology Alveolar bone loss around teeth Premature loss of primary teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Chronic pain Striae distensae Mitral stenosis Generalized joint laxity Periodontitis Gingivitis Soft skin Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Sacral lipoma



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