Autoimmunity, and Pectus carinatum

Diseases related with Autoimmunity and Pectus carinatum

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


Top matches:

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

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

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

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Other less relevant matches:

Low match EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO


EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Low match EHLERS-DANLOS SYNDROME TYPE 2


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Low match MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19


Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Top 5 symptoms//phenotypes associated to Autoimmunity and Pectus carinatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Kyphosis Hearing impairment Myopia Abnormality of the cardiovascular system Pectus excavatum Micrognathia Hydrocele testis Abnormality of the sternum Seizures Joint laxity Hernia Short neck Generalized hypotonia Muscle weakness Nystagmus Sensorineural hearing impairment Low-set ears Hypertelorism Motor delay Intellectual disability, mild Gastroesophageal reflux

Rare Symptoms - Less than 30% cases


Broad forehead Skeletal dysplasia Epicanthus Depressed nasal bridge Delayed speech and language development Talipes equinovarus Midface retrusion Skeletal muscle atrophy Cognitive impairment Genu valgum Arthritis Respiratory tract infection Gait disturbance Malar flattening Abnormal lung morphology Retinal detachment Retinal degeneration Bowing of the legs Dermal atrophy Macrocephaly Hashimoto thyroiditis Transitional cell carcinoma of the bladder Progressive macrocephaly Varicocele Thyroid adenoma Angioid streaks of the fundus Colonic diverticula Subcutaneous lipoma Hamartomatous polyposis Ovarian cyst Furrowed tongue Meningioma Skin tags Thyroiditis Inguinal hernia Hyperthyroidism Goiter Palmoplantar hyperkeratosis Breast carcinoma Gynecomastia Intention tremor Hypoplasia of the maxilla Hypothyroidism Narrow mouth Hyperextensible skin Low anterior hairline Umbilical hernia Hypertension Fibroadenoma of the breast Pain Recurrent respiratory infections Spinal rigidity Waddling gait Generalized muscle weakness Poor head control Kyphoscoliosis Polyhydramnios Pes cavus Bulbar palsy Growth delay Feeding difficulties Ataxia Muscular hypotonia Areflexia Short stature Progressive joint destruction Sparse hair Upslanted palpebral fissure Halitosis Muscle fibrillation Pneumonia Bilateral ptosis Fever Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Abnormality of dental structure Scarring Short palpebral fissure Anal atresia Aplasia cutis congenita Aged leonine appearance Absent lower eyelashes Multiple rows of eyelashes Distichiasis Periorbital fullness Absent eyelashes Poor suck Bulbous nose Conjunctivitis Abnormality of joint mobility Ectodermal dysplasia Broad nasal tip Single transverse palmar crease Thick vermilion border Antineutrophil antibody positivity Spondylolysis Abnormality of the ilium Impaired smooth pursuit Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Nasal speech Dysostosis multiplex Delusions Abnormal cornea morphology Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the rib cage Synovitis Hypoplastic inferior ilia Synostosis of joints Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Pes planus Oligosacchariduria Cerebral dysmyelination Abnormal echocardiogram Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Dysphonia Aortic aneurysm Joint hyperflexibility Graves disease Abnormal cardiac septum morphology Leukemia Pulmonic stenosis Webbed neck EMG: myopathic abnormalities Ventricular hypertrophy Low posterior hairline Left ventricular hypertrophy Hyperpigmentation of the skin Relative macrocephaly Systemic lupus erythematosus Pleural effusion Curly hair Acute lymphoblastic leukemia Chylothorax Hyperkeratosis Long face Dysphagia Hyporeflexia Difficulty walking Proximal muscle weakness Arthrogryposis multiplex congenita Ophthalmoplegia Distal amyotrophy Palmoplantar cutis laxa Esotropia Cyanosis Decreased fetal movement Diplopia Congenital hip dislocation Microretrognathia Hypertrophic cardiomyopathy Abnormal heart morphology Bruising susceptibility Aortic dissection Abnormal oral cavity morphology Femoral hernia Bladder diverticulum Peritonitis Generalized joint laxity Varicose veins Soft skin Flexion contracture Atrophic scars Femoral bowing Easy fatigability Recurrent urinary tract infections Thin skin Congenital diaphragmatic hernia Cigarette-paper scars Respiratory insufficiency Patent ductus arteriosus Failure to thrive Edema Atrial septal defect Cardiomyopathy Ventricular septal defect Downslanted palpebral fissures Cryptorchidism Chronic lung disease Dyspnea Recurrent lower respiratory tract infections Centrally nucleated skeletal muscle fibers Exercise intolerance Facial palsy Rigidity Retrognathia Stridor Flat occiput Neurodevelopmental delay Vestibular dysfunction Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Respiratory arrest Ovoid vertebral bodies Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Barrel-shaped chest Myelopathy Abnormality of epiphysis morphology Delayed calcaneal ossification Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Spasticity Strabismus Muscle fiber atrophy Limitation of knee mobility Limited elbow movement Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Rhizomelia Abnormal form of the vertebral bodies Hepatomegaly Severe short stature Hyperlordosis Apnea Apneic episodes precipitated by illness, fatigue, stress Choking episodes Glaucoma Polydactyly Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress Congestive heart failure Respiratory distress EMG: impaired neuromuscular transmission Acetylcholine receptor antibody positivity Nasal regurgitation Sudden episodic apnea Abnormality of the metaphysis Central sleep apnea Spinal deformities Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Limitation of joint mobility Pulmonary hypoplasia Hip dislocation Flat face EEG with polyspike wave complexes Paresthesia Micromelia Staring gaze Narrow chest Platyspondyly Obstructive sleep apnea Hyperreflexia Bowel incontinence Hip dysplasia Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Otitis media Progressive neurologic deterioration Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Hypertrichosis Bowing of the long bones Thick eyebrow Widely spaced teeth Open bite Cleft palate Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Tall stature Narrow palate Toe walking Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Highly arched eyebrow Confusion Dysarthria Myopathy Immunodeficiency Splenomegaly Fatigable weakness Behavioral abnormality Abnormality of the dentition Cerebellar atrophy Intellectual disability, severe Recurrent infections Hydrocephalus Ventriculomegaly Abnormality of the skeletal system Frontal bossing Optic atrophy Neck muscle weakness Central hypotonia Cerebral atrophy Depressivity Dysmetria Hepatosplenomegaly Abnormality of the foot Abnormality of the cerebral white matter Neurological speech impairment Corneal opacity Mental deterioration Anxiety Coarse facial features Weak cry Osteopenia Macrotia Mandibular prognathia Gait ataxia Prominent forehead Babinski sign Delayed skeletal maturation Hypermetropia



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