Autoimmunity, and Skeletal dysplasia

Diseases related with Autoimmunity and Skeletal dysplasia

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


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Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

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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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 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK


Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

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 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

Top 5 symptoms//phenotypes associated to Autoimmunity and Skeletal dysplasia

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Rhizomelia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Platyspondyly Short neck Hypothyroidism Thrombocytopenia Diarrhea Hyperlordosis Respiratory tract infection Arthritis Cataract Combined immunodeficiency Talipes equinovarus Recurrent bacterial infections Seizures Depressed nasal bridge Micromelia Muscular hypotonia Kyphosis Lumbar hyperlordosis Metaphyseal dysplasia Cellular immunodeficiency Metaphyseal chondrodysplasia Recurrent infections Hypotrichosis Growth delay Abnormal lung morphology Scoliosis Pneumonia Generalized hypotonia Short stature Global developmental delay Metaphyseal irregularity Myopia

Rare Symptoms - Less than 30% cases


Congestive heart failure Gait disturbance Malabsorption Hypertension Pain Sensorineural hearing impairment Nystagmus Hypertelorism Hearing impairment Spondylometaphyseal dysplasia Barrel-shaped chest Muscle weakness Hip dislocation Malar flattening Otitis media Hypocalcemia Short long bone Cone-shaped epiphyses of the phalanges of the hand Abnormal facial shape Vomiting Decreased antibody level in blood Opacification of the corneal stroma Delayed skeletal maturation Gliosis Corneal opacity Cognitive impairment Motor delay Cerebellar atrophy Abnormality of the dentition Short metacarpal Ovoid vertebral bodies Midface retrusion Genu valgum Hernia Apnea Pectus carinatum Broad forehead Hypermelanotic macule Narrow chest Retinal degeneration Disproportionate short stature Waddling gait Limb undergrowth Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Genu varum Spondyloepiphyseal dysplasia Bowing of the legs Vitiligo Osteopenia Restrictive ventilatory defect Intellectual disability, mild Hepatosplenomegaly Hepatitis Cerebral calcification Hemolytic anemia Abnormality of the cerebral white matter Kyphoscoliosis Abnormality of the skeletal system Systemic lupus erythematosus Chronic diarrhea Spasticity Short toe Skin rash Lymphadenopathy Nephrotic syndrome Thyroiditis Encephalitis Recurrent respiratory infections Lymphoma Alopecia Splenomegaly Fever Nephritis Hepatomegaly Abnormality of the metaphysis Cerebral atrophy Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Joint laxity Lymphoproliferative disorder Mucopolysacchariduria Behavioral abnormality Hypoplasia of the capital femoral epiphysis Subvalvular aortic stenosis Arteriosclerosis Villous atrophy Encephalomalacia Cerebral ischemia Right ventricular cardiomyopathy Precocious atherosclerosis Dentinogenesis imperfecta Increased thyroid-stimulating hormone level Dysarthria Abnormal T cell morphology Ventriculomegaly Macrocephaly Hyperreflexia Optic atrophy Epicanthus Frontal bossing Delayed speech and language development Strabismus Ataxia Abnormality of the hair Abnormal immunoglobulin level Hydrocephalus Intellectual disability, severe Lateral displacement of the femoral head Myopathy Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Skeletal muscle atrophy B-cell lymphoma Steatorrhea Disproportionate short-trunk short stature Bulbous nose Intellectual disability, profound Microdontia Decreased testicular size Premature birth Migraine Brain atrophy Abnormal cerebellum morphology Neutropenia Nephropathy Abnormality of skin pigmentation Heterotopia Stage 5 chronic kidney disease Astigmatism Stroke Scarring Developmental regression Abnormality of the kidney Abnormality of the immune system Proteinuria Thin upper lip vermilion Fine hair Lymphopenia Thoracic kyphosis Focal segmental glomerulosclerosis Transient ischemic attack Abnormality of pelvic girdle bone morphology Abnormality of the vertebral column Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots High pitched voice Emphysema Melanocytic nevus Bone marrow hypocellularity Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Depressivity Abnormal erythrocyte morphology Areflexia Abnormality of the ilium Oligosacchariduria Spondylolysis Increased vertebral height Increased hepatic glycogen content Abnormality of the sternum Femoral bowing Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Abnormality of joint mobility Synostosis of joints Antineutrophil antibody positivity Neurodevelopmental delay Abnormality of dental structure Bowel incontinence Open bite Flat occiput Heart murmur Progressive joint destruction Chronic otitis media Prominent supraorbital ridges Thickened calvaria Cerebral dysmyelination Flattened moderately deformed vertebrae Hydrocele testis Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Thoracolumbar kyphosis Spondylolisthesis Abnormality of the helix Vacuolated lymphocytes Reduced ejection fraction Dysostosis multiplex Bronchitis Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Cranial hyperostosis Abnormality of the gingiva Long ear Retinal thinning Synovial hypertrophy Dementia Inguinal hernia Hypermetropia Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Confusion Dysmetria Leukopenia Abnormality of the foot Neurological speech impairment Dental malocclusion Mental deterioration Anxiety Umbilical hernia Abnormal echocardiogram Coarse facial features Macrotia Mandibular prognathia Gait ataxia Prominent forehead Babinski sign Delayed myelination Leukemia Widely spaced teeth Amblyopia Narrow palate Spinocerebellar tract disease in lower limbs Low anterior hairline Neoplasm Hypercalcemia Spastic gait Hallucinations Limb ataxia Mesomelia Gingival overgrowth Spondyloepimetaphyseal dysplasia Hip dysplasia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Increased intracranial pressure Failure to thrive Headache Limitation of joint mobility Progressive sensorineural hearing impairment Short thorax Vestibular dysfunction Back pain Growth abnormality Sleep apnea Coxa vara Osteoarthritis High myopia Retinal detachment Vitreoretinopathy Pulmonary hypoplasia Flat face Paresthesia Glaucoma Polydactyly Respiratory distress Cleft palate Hypopigmented skin patches on arms Arthralgia/arthritis Hypoplasia of the odontoid process Myelopathy Progressive spastic quadriplegia Respiratory insufficiency Pachygyria Abnormality of the ribs Short palm Respiratory failure Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Arrhythmia Atrial septal defect Brachydactyly Limited elbow movement Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Metaphyseal sclerosis Madelung deformity Short ribs Eosinophilia Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow Leukocytosis Erythroderma Scaling skin Disproportionate short-limb short stature Recurrent fungal infections Shock Increased body weight Thickened skin Inflammatory abnormality of the skin Sepsis Dry skin Pruritus Papule Edema B lymphocytopenia Protracted diarrhea Decrease in T cell count Scleroderma Tubulointerstitial fibrosis Immune dysregulation Juvenile rheumatoid arthritis Narrow nose Irregular vertebral endplates Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Basal ganglia calcification Spastic diplegia Generalized lymphadenopathy Rheumatoid arthritis Purpura Recurrent otitis media Spastic tetraplegia Tetraplegia Arthralgia Low-set ears Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Short phalanx of finger Accelerated skeletal maturation Renal insufficiency Hypopigmented skin patches Increased circulating cortisol level Hypoparathyroidism Primary adrenal insufficiency Macular atrophy Abnormality of the thyroid gland Adrenal insufficiency Diabetes insipidus Constriction of peripheral visual field Cholelithiasis Abnormality of the fingernails Adrenal hyperplasia Type I diabetes mellitus Hypergonadotropic hypogonadism Sinusitis Hypoplasia of dental enamel Dehydration Pigmentary retinopathy Hypotension Muscle cramps Nausea Chronic sinusitis Antinuclear antibody positivity Retinopathy Chronic hepatitis Cardiomyopathy Intrauterine growth retardation Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Female hypogonadism Alopecia areata Asplenia Keratoconjunctivitis Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Nausea and vomiting Abnormality of the liver Lissencephaly Cardiorespiratory arrest Porencephalic cyst Metaphyseal cupping Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Heart block Narrow greater sacrosciatic notches Turricephaly Short finger Cortical gyral simplification Thoracic hypoplasia Abnormality of neuronal migration Cone-shaped epiphysis Redundant skin Poor suck Atrioventricular block Coronal cleft vertebrae Third degree atrioventricular block Pallor Horizontal inferior border of scapula Rigidity Photophobia Reduced visual acuity Diabetes mellitus Hypogonadism Rod-cone dystrophy Constipation Visual impairment 11 thoracic vertebrae Irregular tarsal bones Cupped ribs Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Metaphyseal cupping of metacarpals



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