Autoimmunity, and Pectus excavatum

Diseases related with Autoimmunity and Pectus excavatum

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


Top matches:

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

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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Other less relevant matches:

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match CILIARY DYSKINESIA, PRIMARY, 30; CILD30


CILIARY DYSKINESIA, PRIMARY, 30; CILD30 Is also known as ciliary dyskinesia, primary, 30, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Pectus excavatum
  • Cough
  • Dyskinesia
  • Asthma


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 30; CILD30

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

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 CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Low match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Meningioma Uncommon - Between 30% and 50% cases
Hashimoto thyroiditis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hamartomatous polyposis High palate Micrognathia Delayed speech and language development Varicocele Generalized hypotonia Subcutaneous lipoma Colonic diverticula Angioid streaks of the fundus Thyroid adenoma Fibroadenoma of the breast Transitional cell carcinoma of the bladder Broad thumb Short stature Muscle weakness Ovarian cyst Macrocephaly Myopathy Hypertelorism Skeletal muscle atrophy Progressive macrocephaly Furrowed tongue Hearing impairment Intellectual disability, mild Myopia Hydrocele testis Kyphosis Narrow mouth Cataract Hypothyroidism Hypoplasia of the maxilla Abnormality of the cardiovascular system Intention tremor Gynecomastia Breast carcinoma Palmoplantar hyperkeratosis Goiter Hyperthyroidism Thyroiditis Skin tags

Rare Symptoms - Less than 30% cases


Intestinal polyposis Brachydactyly Arteriovenous malformation Lipoma Failure to thrive Low-set ears Cognitive impairment Motor delay Generalized joint laxity Downslanted palpebral fissures Leukemia Papule Polyhydramnios Hyperkeratosis Recurrent respiratory infections Cryptorchidism Hyperextensible skin Joint laxity Gastroesophageal reflux Respiratory distress Follicular hyperkeratosis Multiple cafe-au-lait spots Hamartoma Atrial septal defect Multiple lipomas Neoplasm Anteverted nares Global developmental delay Subcutaneous nodule Lymphoma Long philtrum Telangiectasia Frontal bossing Intracranial hemorrhage Cutis marmorata Aortic aneurysm Joint hyperflexibility Soft skin Atrophic scars Varicose veins Graves disease Peritonitis Bladder diverticulum Femoral hernia Aortic dissection Acute lymphoblastic leukemia Abnormal oral cavity morphology Cigarette-paper scars Flexion contracture Feeding difficulties Respiratory insufficiency Curly hair Respiratory failure Abnormality of the sternum Neonatal hypotonia Muscular dystrophy Limb muscle weakness Delayed puberty Dry skin Severe muscular hypotonia Dermal atrophy Bruising susceptibility Recurrent urinary tract infections Abnormal eyebrow morphology Arthritis Erythema Scarring Hypotrichosis Ichthyosis Inflammatory abnormality of the skin Sparse eyebrow Spinal muscular atrophy Epiphora Aplasia/Hypoplasia of the skin Atopic dermatitis Absent eyelashes Folliculitis Thin skin Comedo Sunken cheeks Abnormal perifollicular morphology Hypertension Hernia Inguinal hernia Chylothorax Umbilical hernia Pes planus Pectus carinatum EMG: myopathic abnormalities Retinal detachment Congenital diaphragmatic hernia Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Poor head control Parietal bossing Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Absent outer dynein arms Tracheomalacia Short columella Relative macrocephaly Hyperpigmentation of the skin Left ventricular hypertrophy Bronchomalacia Low posterior hairline Ventricular hypertrophy Webbed neck Short middle phalanx of finger Bronchospasm Intercostal retractions Ptosis Epicanthus Ventricular septal defect Short neck Cardiomyopathy Pulmonic stenosis Edema Patent ductus arteriosus Abnormal heart morphology Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Hallux valgus Abnormality of the hand Congenital contracture Abnormal facial shape Congenital muscular dystrophy Multiple joint contractures Mildly elevated creatine phosphokinase Spinal rigidity Weak cry Centrally nucleated skeletal muscle fibers Neck muscle weakness Overweight Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Depressed nasal bridge Tachypnea Syndactyly Midface retrusion Clinodactyly Proptosis Dyspnea Pleural effusion Retrognathia Respiratory tract infection Finger syndactyly Systemic lupus erythematosus Abnormality of the foot Thick vermilion border Highly arched eyebrow Alopecia Intestinal polyp Respiratory insufficiency due to defective ciliary clearance Macroglossia Headache Dilatation Recurrent infections Autism Proximal muscle weakness Carcinoma Intellectual disability, moderate Abnormality of the kidney Nausea and vomiting Joint hypermobility Polymicrogyria Palmoplantar keratoderma Abnormal cerebellum morphology Decreased antibody level in blood Diarrhea Overgrowth Chronic diarrhea Exotropia Cafe-au-lait spot Lymphopenia Neoplasm of the skin Cranial nerve paralysis Drooling Hemangioma Increased intracranial pressure Hypopigmented skin patches Melanoma Incoordination Immunodeficiency Hydrocephalus Hand polydactyly Cachexia Muscular hypotonia Short nose Delayed skeletal maturation Macrotia Hypoglycemia Neurological speech impairment Dolichocephaly Wide nose Nevus Tall stature Lymphedema Narrow palate Delayed gross motor development Irregular hyperpigmentation Tremor Capillary hemangioma Abnormality of the optic nerve Angina pectoris Thyroid carcinoma Visceral angiomatosis Neoplasm of the breast Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Abnormal large intestine morphology Neoplasm of the adrenal cortex Ataxia Pain Dysdiadochokinesis Melanocytic nevus Productive cough Asthma Acrokeratosis Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Cough Dyskinesia Otitis media Pseudopapilledema Recurrent otitis media Bronchiectasis Situs inversus totalis Neonatal respiratory distress Dextrocardia Ciliary dyskinesia Rhinitis Recurrent lower respiratory tract infections Nasal obstruction Chronic bronchitis Abdominal situs inversus Allergic rhinitis Nasal polyposis Mucosal telangiectasiae Colorectal polyposis Macule Astrocytoma Abnormality of the thyroid gland Cystic hygroma Cellulitis Acute myeloid leukemia Ovarian neoplasm Hodgkin lymphoma Renal cell carcinoma Scaphocephaly Abnormality of the vasculature Papilledema Prolactin excess Megalencephaly Abnormality of the uterus Bone cyst Endometrial carcinoma Cellular immunodeficiency Long penis Cavernous hemangioma Enlarged polycystic ovaries Papilloma Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Abnormality of the penis Ovarian carcinoma Follicular thyroid carcinoma Palmoplantar cutis laxa



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