Autoimmunity, and Platyspondyly

Diseases related with Autoimmunity and Platyspondyly

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


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Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Top 5 symptoms//phenotypes associated to Autoimmunity and Platyspondyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Recurrent infections Immunodeficiency Short neck Skeletal dysplasia Bowing of the legs Nystagmus Thrombocytopenia Hypertelorism Anemia Abnormal form of the vertebral bodies Global developmental delay Hip dislocation Cellular immunodeficiency Muscular hypotonia Pain Cataract Myopia Gait disturbance Talipes equinovarus Malar flattening Kyphosis Hypothyroidism Growth delay Combined immunodeficiency Kyphoscoliosis Hypertension Systemic lupus erythematosus Abnormality of the skeletal system Diarrhea Recurrent respiratory infections Rhizomelia Abnormal lung morphology Lumbar hyperlordosis Irregular vertebral endplates Hearing impairment Generalized hypotonia Micromelia Hyperlordosis Recurrent bacterial infections Arthritis Congestive heart failure

Rare Symptoms - Less than 30% cases


Barrel-shaped chest Spondylometaphyseal dysplasia Muscle weakness Cleft palate Sensorineural hearing impairment Hypermelanotic macule Narrow chest Midface retrusion Short metacarpal Synostosis of joints Narrow palate Hip dysplasia Prominent forehead Frontal bossing Gliosis Corneal opacity Abnormality of the dentition Cerebellar atrophy Motor delay Cognitive impairment Abnormal facial shape Delayed epiphyseal ossification Abnormality of the ribs Delayed skeletal maturation Hernia Waddling gait Apnea Pectus carinatum Broad forehead Metaphyseal irregularity Genu valgum Retinal degeneration Limb undergrowth Brachydactyly Osteoarthritis Abnormality of epiphysis morphology Spondyloepiphyseal dysplasia Disproportionate short stature Ovoid vertebral bodies Seizures Restrictive ventilatory defect Osteopenia B-cell lymphoma Hepatomegaly Autoimmune thrombocytopenia Hepatitis Recurrent otitis media Hepatosplenomegaly Autoimmune hemolytic anemia Decrease in T cell count Lymphopenia Neutropenia Spasticity Low-set ears Intellectual disability, mild Severe short stature Abnormality of the cerebral white matter Hemolytic anemia Splenomegaly Purpura Nephritis Encephalitis Open bite Optic disc pallor Psychosis Pancytopenia Limb dystonia Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Type II diabetes mellitus Delusions Peripheral demyelination Hypertrichosis Otitis media Impaired smooth pursuit Decreased antibody level in blood Dental malocclusion Delayed myelination Progressive cerebellar ataxia Depressed nasal ridge Bowing of the long bones Progressive neurologic deterioration Prominent supraorbital ridges Flat occiput Heart murmur Neurodevelopmental delay Chronic otitis media Femoral bowing Abnormality of the sternum Thickened calvaria Bronchitis Increased intracranial pressure Bowel incontinence Widely spaced teeth Macroglossia Low anterior hairline Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Tall stature Rheumatoid arthritis Abnormality of the foot Neurodegeneration Premature arteriosclerosis Skeletal muscle atrophy Dysarthria Hyperreflexia Epicanthus Delayed speech and language development Strabismus Ataxia Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Moyamoya phenomenon Optic atrophy Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Macrocephaly Sepsis Highly arched eyebrow Macrotia Thick eyebrow Confusion Dysmetria Hydrocele testis Hypermetropia Neurological speech impairment Mental deterioration Anxiety Umbilical hernia Coarse facial features Mandibular prognathia Ventriculomegaly Gait ataxia Babinski sign Inguinal hernia Areflexia Depressivity Cerebral atrophy Behavioral abnormality Myopathy Intellectual disability, severe Hydrocephalus Dysostosis multiplex Abnormal echocardiogram Reduced ejection fraction Abnormality of the genital system Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Hemivertebrae Congenital hip dislocation Short thumb Renal hypoplasia Radioulnar synostosis Convex nasal ridge Renal agenesis Hypodontia High, narrow palate Toe syndactyly Congenital cataract Finger syndactyly Prominent nasal bridge Short philtrum Protruding ear Deep philtrum Elbow dislocation Retrognathia Crossed fused renal ectopia Lumbar scoliosis Lower limb undergrowth Enlarged joints Spondyloepimetaphyseal dysplasia Secondary amenorrhea Short femoral neck Acne Amenorrhea Hirsutism Bilateral renal hypoplasia Ectropion Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Deeply set eye Proptosis Abnormality of the helix Retinal thinning Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Cerebral dysmyelination Long ear Antineutrophil antibody positivity Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Dentinogenesis imperfecta Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of joint mobility Abnormality of dental structure Syndactyly Beaking of vertebral bodies Short nose Downslanted palpebral fissures Ptosis Micrognathia Schmorl's node Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Exostoses Progressive joint destruction Arthropathy Pathologic fracture Joint hypermobility Joint stiffness Abnormal erythrocyte morphology Leukopenia Leukemia Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Right ventricular cardiomyopathy Abnormality of the vasculature Subvalvular aortic stenosis Hypoplasia of the odontoid process Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Vitreoretinopathy IgA deficiency Limitation of knee mobility Progressive sensorineural hearing impairment Short thorax Vestibular dysfunction Severe combined immunodeficiency Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Recurrent lower respiratory tract infections Neonatal short-trunk short stature Delayed calcaneal ossification Recurrent viral infections Leukoencephalopathy Atrioventricular block Short long bone Lissencephaly Accelerated skeletal maturation Hypocalcemia Short ribs Short toe Short phalanx of finger Pachygyria Short palm Malnutrition Respiratory failure Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Eosinophilia Arrhythmia Atrial septal defect Respiratory insufficiency Recurrent upper respiratory tract infections Abnormality of pelvic girdle bone morphology Abnormality of the metaphysis High myopia Redundant skin Madelung deformity Anti-thyroid peroxidase antibody positivity Reduced red cell adenosine deaminase activity Absent specific antibody response Arthralgia Lymphadenopathy Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Tubulointerstitial fibrosis Severe B lymphocytopenia Tetraplegia Immune dysregulation Juvenile rheumatoid arthritis Cerebral calcification Narrow nose Spastic tetraplegia Vitiligo Recurrent sinusitis Basal ganglia calcification Scleroderma Lack of T cell function Abnormality of humoral immunity Verrucae B lymphocytopenia Allergy Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face IgM deficiency Paresthesia Increased IgE level Pulmonary insufficiency Diffuse mesangial sclerosis Absent tonsils Recurrent fungal infections Glaucoma Polydactyly Anterior rib cupping Aplasia of the thymus Cortical sclerosis Recurrent opportunistic infections Immunoglobulin IgG2 deficiency Respiratory distress Absence of lymph node germinal center Poor suck Cone-shaped epiphysis Precocious atherosclerosis Migraine Bone marrow hypocellularity Heterotopia Fine hair Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Lymphoma Premature birth Brain atrophy Atherosclerosis Asthma Abnormal cerebellum morphology Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Malabsorption Stroke Scarring Opacification of the corneal stroma Hyperlipidemia Abnormality of the kidney Multiple cafe-au-lait spots Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Thoracic kyphosis Transient ischemic attack Spastic diplegia Protuberant abdomen Glomerulopathy Steatorrhea Azoospermia High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Developmental regression Proteinuria Abnormality of neuronal migration Hypoplastic iliac wing Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Porencephalic cyst Metaphyseal cupping Metaphyseal chondrodysplasia Flared iliac wings 11 pairs of ribs Myocarditis Flat acetabular roof Pulmonary hemorrhage Hyperphosphatemia Recurrent pneumonia Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Turricephaly Metaphyseal dysplasia Short finger Cortical gyral simplification Thoracic hypoplasia Cupped ribs Long fibula Thin upper lip vermilion Chronic diarrhea Failure to thrive Dementia Headache Renal insufficiency Inflammatory abnormality of the skin Vomiting Cardiomyopathy Intrauterine growth retardation Fever Sinusitis Myocardial necrosis 11 thoracic vertebrae Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Premature pubarche



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