Breast carcinoma, and Kyphosis

Diseases related with Breast carcinoma and Kyphosis

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


Top matches:

Medium match COWDEN SYNDROME 5; CWS5


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Medium match COWDEN SYNDROME 6; CWS6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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Other less relevant matches:

Medium 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

Medium match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Medium match MCCUNE-ALBRIGHT SYNDROME


McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

MCCUNE-ALBRIGHT SYNDROME Is also known as gonadotropin-independent female-limited sexual precocity

Related symptoms:

  • Optic atrophy
  • Macrocephaly
  • Abnormality of the dentition
  • Kyphosis
  • Mandibular prognathia


SOURCES: ORPHANET MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME

Medium match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Kyphosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Kyphosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Multiple cafe-au-lait spots Goiter Meningioma Lymphoma Astrocytoma Leukemia Neoplasm of the breast Fibroadenoma of the breast Hamartomatous polyposis Hashimoto thyroiditis Hyperthyroidism Sarcoma Macrocephaly Micrognathia Hearing impairment Intention tremor Pectus excavatum Intellectual disability, mild Hypoplasia of the maxilla Muscle weakness Cafe-au-lait spot Subcutaneous nodule Telangiectasia Skeletal muscle atrophy Palmoplantar hyperkeratosis Neurofibromas Myopia Gynecomastia Cataract Recurrent fractures Multiple lipomas Intellectual disability, moderate High palate Intestinal polyposis Carcinoma Bone pain Broad thumb Anemia Thyroid adenoma Furrowed tongue Ovarian cyst Subcutaneous lipoma Colonic diverticula Abnormality of the cardiovascular system Angioid streaks of the fundus Skin tags Varicocele Progressive macrocephaly Transitional cell carcinoma of the bladder Hypothyroidism Narrow mouth Hypertelorism Precocious puberty Global developmental delay Thyroiditis Cognitive impairment Hydrocele testis

Rare Symptoms - Less than 30% cases


Polycystic ovaries Brain neoplasm Increased circulating cortisol level Open bite Intestinal polyp Renal cell carcinoma Hypophosphatemia Lipoma Decreased proportion of CD4-positive T cells Parathyroid adenoma Neoplasm of the central nervous system Tall stature Tremor Neoplasm of the thyroid gland Narrow palate Strabismus Ataxia Failure to thrive Low-set ears Cerebral palsy Brachydactyly Chondrosarcoma Mucosal telangiectasiae Frontal bossing Recurrent infections Neoplasm of the adrenal cortex Myopathy Chronic myelogenous leukemia Optic atrophy Abnormality of the dentition Glioma Mandibular prognathia Colorectal polyposis Elevated hepatic transaminase Immunodeficiency Carious teeth Abnormal cerebellum morphology Increased intracranial pressure Incoordination Hodgkin lymphoma Kyphoscoliosis Autism Arteriovenous malformation Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Headache Hamartoma Ovarian neoplasm Hydrocephalus Hypoglycemia Flexion contracture Abnormality of the skeletal system Dysarthria Peripheral neuropathy Hypertension Microcephaly Delayed speech and language development Ptosis Pain Abnormal facial shape Reduced bone mineral density Cutis marmorata Intracranial hemorrhage Thyroid carcinoma Cranial nerve paralysis Overgrowth Hemangioma Lymphopenia Facial asymmetry Decreased antibody level in blood Long penis Melanoma Cellular immunodeficiency Venous thrombosis Neurological speech impairment Increased sensitivity to ionizing radiation Non-Hodgkin lymphoma Progressive spinal muscular atrophy Aplasia/Hypoplasia of the thymus Female hypogonadism Abnormality of chromosome stability Elevated alpha-fetoprotein Immunoglobulin IgG2 deficiency Chronic hepatitis Interosseus muscle atrophy Decreased/absent ankle reflexes Conjunctival telangiectasia Cleft palate Sensorineural hearing impairment Hypoplasia of the thymus Defective B cell differentiation IgE deficiency Abnormal spermatogenesis Chronic lymphatic leukemia Recurrent pneumonia Absent Achilles reflex Abnormality of eye movement Bronchiectasis Choreoathetosis Pancytopenia Type II diabetes mellitus Apraxia Hepatitis Chorea Progressive cerebellar ataxia Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Delayed puberty Sinusitis Distal muscle weakness Abnormality of the liver Respiratory tract infection Anxiety Difficulty walking Gait ataxia Diabetes mellitus Myoclonus Recurrent respiratory infections Pneumonia Dystonia Cerebellar atrophy Gait disturbance Limb ataxia Abnormal vertebral morphology Spinocerebellar tract degeneration Prematurely aged appearance Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair IgA deficiency Myeloid leukemia Abnormality of the hair Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Slurred speech Reduced tendon reflexes Oculomotor apraxia Truncal ataxia Cryptorchidism Dental malocclusion Depressed nasal bridge Abnormal nasolacrimal system morphology Proximal radio-ulnar synostosis Premature closure of fontanelles Duplication of the distal phalanx of hand Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Parietal foramina Renotubular dysgenesis Congenital adrenal hyperplasia Craniofacial dysostosis Lacrimal duct stenosis Lambdoidal craniosynostosis Anterior plagiocephaly Oxycephaly Buphthalmos Abnormal hair pattern Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Prominent crus of helix Partial duplication of the distal phalanx of the 3rd finger Short columella Lymphedema Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Visceral angiomatosis Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Aortic aneurysm Cachexia Delayed gross motor development Nevus Partial duplication of the distal phalanx of the 2nd finger Wide nose Joint hyperflexibility Dolichocephaly Macrotia Delayed skeletal maturation Long philtrum Short nose Anteverted nares Muscular hypotonia Cleft of chin Absent first metatarsal Abnormality of the antihelix Coronal craniosynostosis Epicanthus Low-set, posteriorly rotated ears Single transverse palmar crease Flat face Toe syndactyly Finger syndactyly Broad forehead Prominent nasal bridge Microtia Craniosynostosis Protruding ear Hyperlordosis Cleft lip Convex nasal ridge Telecanthus Conductive hearing impairment High forehead Proptosis Brachycephaly Posteriorly rotated ears Clinodactyly of the 5th finger Clinodactyly Midface retrusion Syndactyly Malar flattening Migraine Hypotelorism Abnormality of the skull Triphalangeal thumb Bilateral cleft lip Shallow orbits Narrow nose External ear malformation Abnormality of digit Vertebral fusion Long nose Delayed cranial suture closure Broad hallux Hallux valgus Epiphora Trigonocephaly Abnormal form of the vertebral bodies Radioulnar synostosis Abnormality of pelvic girdle bone morphology Abnormality of the genitourinary system Sleep apnea Cutaneous syndactyly Plagiocephaly Coxa valga Elbow flexion contracture Bilateral single transverse palmar creases Low anterior hairline Amblyopia Spasticity Exostoses Nystagmus Fibular bowing Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Gastrointestinal stroma tumor Vestibular Schwannoma Lisch nodules Renal phosphate wasting Schwannoma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Embryonal rhabdomyosarcoma Neuroma Pheochromocytoma Motor delay Polymicrogyria Joint hypermobility Nausea and vomiting Papule Abnormality of the kidney Proximal muscle weakness Diarrhea Atrial septal defect Downslanted palpebral fissures Generalized hypotonia Neurofibrosarcoma Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Complete atrioventricular canal defect Aqueductal stenosis Macroglossia Weight loss Genu valgum Malabsorption Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Osteopenia Glaucoma Peripheral axonal neuropathy Hyperactivity Osteoporosis Visual loss Depressivity Behavioral abnormality Blindness Cardiomyopathy Respiratory insufficiency Visual impairment Paresthesia Abnormality of skin pigmentation Myocardial fibrosis Sensory axonal neuropathy Neoplasm of the endocrine system Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Freckling Tibial bowing Pulmonary fibrosis Clitoral hypertrophy Gastrointestinal hemorrhage Back pain Atherosclerosis Spina bifida Sensorimotor neuropathy Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Specific learning disability Palmoplantar keratoderma Chronic diarrhea Congenital hypertrophy of retinal pigment epithelium Hearing abnormality Chorioretinal atrophy Colon cancer Intestinal obstruction Hyperextensible skin Horseshoe kidney Hyperpigmentation of the skin Infertility Testicular neoplasm Macroorchidism Generalized hyperpigmentation Increased number of teeth Hyperparathyroidism Prolonged bleeding time Abnormality of vision Abnormal palate morphology Abnormality of dental enamel Abnormality of the face Abnormality of the eye Skeletal dysplasia Neoplasm of the parathyroid gland Agenesis of permanent teeth Neoplasm of the lung Osteochondroma Osteoma Duodenal polyposis Desmoid tumors Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Multiple gastric polyps Abdominal mass Cholangiocarcinoma Medulloblastoma Multiple impacted teeth Adrenocortical carcinoma Absent gallbladder Thoracic kyphoscoliosis Keloids Hepatoblastoma Papillary thyroid carcinoma Epidermoid cyst Adrenocortical adenoma Stomach cancer Hemangiomatosis Multiple enchondromatosis Exotropia Acute myeloid leukemia Enlarged polycystic ovaries Cavernous hemangioma Bone cyst Abnormality of the uterus Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Cellulitis Fibroma Cystic hygroma Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Dysdiadochokinesis Hypopigmented skin patches Drooling Neoplasm of the skin Papilloma Generalized hyperkeratosis Multiple exostoses Ductal carcinoma in situ Osteosarcoma Pituitary adenoma Pathologic fracture Osteolysis Dysphagia Growth delay Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Conjunctival hamartoma Adenoma sebaceum Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Acrokeratosis Pseudopapilledema Endometrial carcinoma Follicular thyroid carcinoma Ovarian carcinoma Abnormality of the penis Abnormal large intestine morphology



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