Autoimmunity, and Lumbar hyperlordosis

Diseases related with Autoimmunity and Lumbar hyperlordosis

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Low match MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY


Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O


Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q

Low match MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16


Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P


Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Low match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Hyperlordosis Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Waddling gait Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Platyspondyly Muscular dystrophy Pneumonia Limb-girdle muscular dystrophy Gowers sign Congestive heart failure Myopia Scoliosis Generalized hypotonia Kyphosis Skeletal muscle atrophy Flexion contracture Global developmental delay Difficulty climbing stairs Restrictive ventilatory defect Rhizomelia Generalized muscle weakness Abnormal lung morphology Proximal muscle weakness Micromelia Skeletal dysplasia Hypothyroidism Severe short stature Short stature

Rare Symptoms - Less than 30% cases


Thrombocytopenia Growth delay Cellular immunodeficiency Intellectual disability, severe Ovoid vertebral bodies Facial palsy Unsteady gait Cognitive impairment Hearing impairment Depressed nasal bridge Hip dislocation Macroglossia Recurrent infections Immunodeficiency Hypertension Cardiomyopathy Gait disturbance Skeletal muscle hypertrophy Short neck Respiratory distress Diarrhea Apnea Midface retrusion Anemia Seizures Respiratory insufficiency Encephalitis Nephritis Sleep apnea High palate Spondyloepiphyseal dysplasia Barrel-shaped chest Ptosis Abnormality of epiphysis morphology Combined immunodeficiency Respiratory tract infection Hypermelanotic macule Abnormal form of the vertebral bodies High myopia Arthritis Brain atrophy Right ventricular dilatation Muscle fiber necrosis Progressive proximal muscle weakness Increased endomysial connective tissue Left ventricular systolic dysfunction Calf muscle pseudohypertrophy Disproportionate short-trunk short stature Tip-toe gait Right ventricular hypertrophy Upper limb muscle weakness Thoracic kyphosis Muscle fiber atrophy Achilles tendon contracture Neck flexor weakness Restrictive deficit on pulmonary function testing Left ventricular failure Difficulty running Dentinogenesis imperfecta Calf muscle hypertrophy Anterior pituitary dysgenesis Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Subvalvular aortic stenosis Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Nephrosclerosis Increased variability in muscle fiber diameter Lateral displacement of the femoral head Precocious atherosclerosis Arrhythmia Cerebral ischemia Long face Inability to walk Villous atrophy Broad-based gait Frequent falls Right ventricular cardiomyopathy Scapular winging EMG: myopathic abnormalities Lymphoproliferative disorder B-cell lymphoma Abnormal macrophage morphology Increased serum lactate EMG: myotonic runs Hypoplasia of the corpus callosum Otitis media Severe global developmental delay Craniosynostosis Gastroesophageal reflux Respiratory failure Hydrocephalus Frontal bossing Epidermal acanthosis Microcephaly Tonsillitis Hypoglycosylation of alpha-dystroglycan Limb-girdle muscle weakness Ankle contracture Difficulty walking Generalized-onset seizure Pulmonary arterial hypertension Fatigable weakness Abnormality of the clavicle Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Tibial bowing Exotropia Femoral bowing Mesomelia Thoracic hypoplasia Redundant skin Acanthosis nigricans Wide anterior fontanel Delayed speech and language development Easy fatigability EMG: positive sharp waves Areflexia Hepatic failure Lactic acidosis Myalgia Pes planus Acidosis Hyporeflexia Myopathy Respiratory insufficiency due to muscle weakness Hepatomegaly Feeding difficulties Failure to thrive Reduced muscle fiber alpha sarcoglycan Absent muscle fiber gamma sarcoglycan EMG: myotonic discharges Abnormality of the vasculature Ragged-red muscle fibers External ophthalmoplegia Muscle fiber hypertrophy Ophthalmoplegia Paralysis Falls Generalized amyotrophy Limb muscle weakness Fatigue Increased muscle glycogen content Myopathic facies Increased muscle lipid content Cytochrome C oxidase-negative muscle fibers Increased serum pyruvate Decreased plasma carnitine Severe lactic acidosis Mitochondrial myopathy Neck muscle weakness Transient ischemic attack Premature birth Protuberant abdomen Glaucoma Metaphyseal sclerosis Arthralgia/arthritis Hypopigmented skin patches on arms Hypertelorism Nystagmus Sensorineural hearing impairment Muscular hypotonia Cleft palate Pain Cataract Talipes equinovarus Malar flattening Hernia Polydactyly Pectus carinatum Madelung deformity Limitation of joint mobility Genu varum Growth abnormality Coxa vara Abnormality of the metaphysis Osteoarthritis Limb undergrowth Retinal detachment Broad forehead Pulmonary hypoplasia Flat face Retinal degeneration Paresthesia Genu valgum Narrow chest Progressive spastic quadriplegia Decrease in T cell count Bowing of the legs Abnormality of the cerebral white matter Spastic tetraplegia Hepatitis Cerebral calcification Tetraplegia Hemolytic anemia Lymphadenopathy Arthralgia Recurrent bacterial infections Kyphoscoliosis Recurrent respiratory infections Intellectual disability, mild Abnormality of the skeletal system Low-set ears Spasticity Recurrent otitis media Purpura Tubulointerstitial fibrosis Autoimmune thrombocytopenia Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Narrow nose Irregular vertebral endplates Vitiligo Recurrent sinusitis Systemic lupus erythematosus Autoimmune hemolytic anemia Basal ganglia calcification Scleroderma Spastic diplegia Metaphyseal irregularity Rheumatoid arthritis Back pain Vestibular dysfunction Glomerulopathy Bone marrow hypocellularity Bulbous nose Nephropathy Neutropenia Abnormal cerebellum morphology Gliosis Migraine Lymphoma Decreased testicular size Microdontia Nephrotic syndrome Intellectual disability, profound Fine hair Heterotopia Lymphopenia Opacification of the corneal stroma Stage 5 chronic kidney disease Glomerulonephritis Multiple cafe-au-lait spots Steatorrhea High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Epiphyseal dysplasia Atherosclerosis Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Abnormality of skin pigmentation Astigmatism Short thorax Cervical myelopathy Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Flattened epiphysis Abnormal facial shape Limited elbow movement Myelopathy Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Delayed calcaneal ossification Fever Malabsorption Thin upper lip vermilion Corneal opacity Stroke Scarring Developmental regression Abnormality of the kidney Proteinuria Osteopenia Intrauterine growth retardation Dementia Headache Renal insufficiency Abnormality of the dentition Vomiting Cerebellar atrophy Enlarged cerebellum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Migraine, related diseases and genetic alterations

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