Breast carcinoma, and Hypermetropia

Diseases related with Breast carcinoma and Hypermetropia

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Hypermetropia 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

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN 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 MENTAL RETARDATION, X-LINKED 106; MRX106


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

Low match GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Low match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Low match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Generalized hypotonia Microcephaly Hypertelorism Delayed speech and language development Short stature Myopia Hearing impairment Hypothyroidism Narrow mouth Scoliosis High palate Kyphosis Intellectual disability, mild Hypoplasia of the maxilla Pectus excavatum Retrognathia Strabismus Obesity Epicanthus Poor speech Transitional cell carcinoma of the bladder Abnormal facial shape Upslanted palpebral fissure Open mouth Fibroadenoma of the breast Low-set ears Progressive macrocephaly Hydrocele testis Hashimoto thyroiditis Thyroiditis Varicocele Meningioma Hyperthyroidism Goiter Furrowed tongue Ovarian cyst Intention tremor Thyroid adenoma Angioid streaks of the fundus Colonic diverticula Subcutaneous lipoma Skin tags Hamartomatous polyposis Palmoplantar hyperkeratosis

Rare Symptoms - Less than 30% cases


Narrow palate Macroglossia Supernumerary nipple Gait ataxia Incoordination Decreased testicular size Thick vermilion border Plagiocephaly Pes planus Impaired pain sensation Feeding difficulties Drooling Hypoplasia of the corpus callosum Neurological speech impairment Polymicrogyria Joint hypermobility Absent speech Short palpebral fissure Failure to thrive Pain Downslanted palpebral fissures Pointed chin Macrocephaly Thin upper lip vermilion Leukemia Clinodactyly Joint laxity Abnormal heart morphology Brachycephaly Hydrocephalus Brachydactyly Hypospadias Hydronephrosis Clinodactyly of the 5th finger Recurrent infections Cognitive impairment Muscular hypotonia Microtia Frontal bossing Neoplasm Nystagmus Abnormality of the cardiovascular system Short neck Wide mouth Abnormality of the pinna Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Acrokeratosis Talipes Smooth philtrum Mitral valve prolapse Renal cyst Triangular face Growth hormone deficiency Neonatal hypotonia Coarctation of aorta Mucosal telangiectasiae Pseudopapilledema Renal dysplasia Colorectal polyposis Endometrial carcinoma Deep philtrum Telecanthus Respiratory insufficiency Enlarged cerebellum High hypermetropia Ventricular septal defect Astigmatism Wide nose Lobular carcinoma in situ Narrow forehead Amblyopia Finger clinodactyly Bicuspid aortic valve Spastic diplegia Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Coarse facial features Slender finger Periventricular leukomalacia Growth delay Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Wide nasal bridge Trichilemmoma Talipes equinovarus Ventriculomegaly Anteverted nares Patent ductus arteriosus Agenesis of corpus callosum Flat occiput Truncal obesity Hypoplastic left heart Diastasis recti Low-set, posteriorly rotated ears Hyperkeratosis Prominent forehead Cerebellar hypoplasia Abnormality of the renal collecting system Tented philtrum Facial hypotonia Abnormality of the cerebral white matter Obstructive sleep apnea Cortical dysplasia Recurrent upper respiratory tract infections Tented upper lip vermilion Sleep apnea Stereotypy Dolichocephaly Dysmetria Brain atrophy Prominent metopic ridge Aplasia/Hypoplasia of the ribs Phimosis Periventricular gray matter heterotopia Talipes calcaneovalgus Colpocephaly Broad philtrum Hallux valgus High, narrow palate Abnormality of neuronal migration Infantile muscular hypotonia Low anterior hairline Heterotopia Hypsarrhythmia Wide intermamillary distance Highly arched eyebrow Delayed myelination Everted lower lip vermilion Delayed ability to walk Infra-orbital crease Delayed puberty Deeply set eye Micropenis Hypogonadism Pes cavus Cryptorchidism Narrow philtrum Small hand Oval face Broad columella Gastrointestinal dysmotility Mitral stenosis Low hanging columella Inverted nipples Thick eyebrow Short foot Long face Malar prominence Short philtrum Apnea Gastroesophageal reflux Recurrent respiratory infections Short ear Uplifted earlobe Misalignment of teeth Tapered finger Intestinal polyp Decreased muscle mass Emotional lability Prominent supraorbital ridges Hypogonadotrophic hypogonadism Specific learning disability Broad nasal tip Follicular thyroid carcinoma Hand polydactyly Ovarian carcinoma Polycythemia Hypoplastic iliac wing Double outlet right ventricle Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Protruding tongue Neurofibrillary tangles Acute monocytic leukemia Congenital hypothyroidism Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Transposition of the great arteries Broad palm Senile plaques Hypoxemia Decreased fertility Neutrophilia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Abnormality of the fontanelles or cranial sutures Pulmonary edema Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Atrioventricular canal defect Hydroureter Ataxia Malar flattening Conductive hearing impairment Umbilical hernia Polydactyly Dementia Thrombocytopenia Abnormality of cardiovascular system morphology Short nose Hypotrichosis Abnormality of the dentition Edema Gait disturbance Hypertension Depressed nasal bridge Anemia Developmental regression Anal atresia Alzheimer disease Thick lower lip vermilion Cholelithiasis Renal hypoplasia/aplasia Sandal gap Bilateral single transverse palmar creases Aganglionic megacolon Depressed nasal ridge Type II diabetes mellitus Flat face Microdontia Postural instability Neutropenia Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Acute megakaryocytic leukemia Muscle weakness Abnormality of the penis Hamartoma Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Acute myeloid leukemia Prolactin excess Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Papilledema Megalencephaly Melanocytic nevus Enlarged polycystic ovaries Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Cavernous hemangioma Arteriovenous malformation Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Astrocytoma Abnormality of the uterus Cutis marmorata Intracranial hemorrhage Motor delay Dilatation Papule Abnormality of the kidney Intellectual disability, moderate Carcinoma Proximal muscle weakness Autism Headache Palmoplantar keratoderma Immunodeficiency Diarrhea Myopathy Atrial septal defect Tremor Skeletal muscle atrophy Nausea and vomiting Abnormal cerebellum morphology Dysdiadochokinesis Lymphopenia Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Cranial nerve paralysis Neoplasm of the skin Cafe-au-lait spot Lymphoma Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Overgrowth Decreased antibody level in blood Abnormality of the cerebral cortex



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Polymicrogyria, related diseases and genetic alterations Cataract and Delayed skeletal maturation, related diseases and genetic alterations Abnormal facial shape and Cerebellar hypoplasia, related diseases and genetic alterations Generalized hypotonia and Abnormality of extrapyramidal motor function, related diseases and genetic alterations Generalized hypotonia and Jaundice, related diseases and genetic alterations Seizures and Hepatic steatosis, related diseases and genetic alterations Skeletal muscle atrophy and Myocardial infarction, related diseases and genetic alterations

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