Breast carcinoma, and Macroglossia

Diseases related with Breast carcinoma and Macroglossia

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


Top matches:

High 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

High 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 LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

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Other less relevant 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 BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
High palate 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 Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Myopia Scoliosis Micrognathia Frontal bossing Intellectual disability, mild Narrow mouth Global developmental delay Skin tags Short stature Generalized hypotonia Fibroadenoma of the breast Hypoplasia of the maxilla Hypertelorism Patent ductus arteriosus Macrocephaly Transitional cell carcinoma of the bladder Progressive macrocephaly Varicocele Thyroid adenoma Pectus excavatum Abnormality of the kidney Colonic diverticula Hamartomatous polyposis Gynecomastia Goiter Palmoplantar hyperkeratosis Hyperthyroidism Thyroiditis Hashimoto thyroiditis Angioid streaks of the fundus Meningioma Hydrocele testis Furrowed tongue Ovarian cyst Subcutaneous lipoma Intention tremor Kyphosis Hydrocephalus Polydactyly Depressed nasal bridge Cognitive impairment Muscular hypotonia Strabismus Epicanthus Malar flattening Neoplasm

Rare Symptoms - Less than 30% cases


Low-set ears Wide nasal bridge Short neck Obesity Long philtrum Prominent forehead Leukemia Ataxia Microtia Cranial nerve paralysis Failure to thrive Developmental regression Pain Hand polydactyly Polymicrogyria Joint hypermobility Edema Short nose Downslanted palpebral fissures Fatigue Abnormality of the vasculature Umbilical hernia Recurrent infections Headache Overgrowth Hoarse voice Ovarian neoplasm Intellectual disability, moderate Papule Nausea and vomiting Brachydactyly Anteverted nares Increased intracranial pressure Splenomegaly Cholelithiasis Abnormality of the cardiovascular system Trichilemmoma Cryptorchidism Enlarged cerebellum Depressed nasal ridge Hepatomegaly Neoplasm of the thyroid gland Acrokeratosis Protruding tongue Supernumerary nipple Inguinal hernia Hypoglycemia Coarse facial features Anemia Hypospadias Episodic abdominal pain Abnormal prolactin level Large for gestational age Decreased cervical spine mobility Psoriasiform dermatitis Moon facies Abnormality of the mitochondrion Periorbital fullness Abnormality of the outer ear Prolonged partial thromboplastin time Protuberant abdomen Generalized hirsutism Sleep apnea Hyperkinesis Low posterior hairline Upper airway obstruction Thoracic hypoplasia Dysostosis multiplex Hypoplastic nipples 2-3 toe syndactyly Anterior creases of earlobe Neuroblastoma Hepatosplenomegaly Embryonal neoplasm Prune belly Auricular pit Postauricular pit Abnormal facial shape Osteoporosis of vertebrae Abdominal wall defect Tethered cord Abnormality of metabolism/homeostasis Abnormality of earlobe Abdominal pain Hyperactivity Prolonged prothrombin time Visceromegaly Syringomyelia Hemihypertrophy Diastasis recti Neonatal hypoglycemia Thin upper lip vermilion Enlarged kidney Elevated hepatic transaminase Abnormality of secondary sexual hair Attention deficit hyperactivity disorder Nevus flammeus Synophrys Smooth philtrum Central hypotonia Anterior pituitary agenesis Memory impairment High, narrow palate Short attention span Long hallux Constipation Abnormality of the eye Deeply set eye Jaundice Osteopenia Polyhydramnios Hypogonadism Agenesis of corpus callosum Pneumonia Delayed skeletal maturation Pulmonic stenosis Midface retrusion Intellectual disability, severe Sensorineural hearing impairment Growth delay Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Severe global developmental delay Delayed puberty Hypochromic anemia Adrenal insufficiency Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Concave nasal ridge Abnormality of digit Hypoplastic left heart Delayed cranial suture closure Optic nerve hypoplasia Infertility Holoprosencephaly Hypogonadotrophic hypogonadism Aspiration Amenorrhea Pituitary hypothyroidism Decreased testicular size Hypotension Growth hormone deficiency Ascites Flat forehead Asymmetry of the thorax Spinal deformities Aplasia/Hypoplasia of the breasts Broad forehead Pectus carinatum Ectopic posterior pituitary Low-set, posteriorly rotated ears Septo-optic dysplasia Retrognathia High forehead Micropenis Hernia Congenital cataract Respiratory distress Aspiration pneumonia Talipes equinovarus Flexion contracture Pituitary dwarfism Ptosis Microcephaly Expressive language delay Neurological speech impairment Talipes Hypochromic microcytic anemia Radial deviation of finger Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Absence of secondary sex characteristics Anterior pituitary hypoplasia Omphalocele Polycystic kidney dysplasia Spina bifida Short toe Median cleft lip and palate Dental crowding Decreased circulating ACTH level Abnormality of the genital system Webbed neck Bruising susceptibility Abnormality of the face Enlarged polycystic ovaries Premature birth Thickened nuchal skin fold Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Acute lymphoblastic leukemia Short middle phalanx of the 5th finger Thrombocytosis Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Complete atrioventricular canal defect Myeloproliferative disorder Transposition of the great arteries Round ear Skeletal muscle atrophy Motor delay Delayed speech and language development Muscle weakness Acute megakaryocytic leukemia Left-to-right shunt Brushfield spots Abnormality of the lymphatic system Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Prematurely aged appearance Broad palm Atrial septal defect Upslanted palpebral fissure Anal atresia Hypotrichosis Joint laxity Hydronephrosis Conductive hearing impairment Brachycephaly Dementia Short palm Clinodactyly of the 5th finger Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Abnormality of the dentition Gait disturbance Hypertension Flat face Postaxial polydactyly Atrioventricular canal defect Bilateral single transverse palmar creases Decreased fertility Hydroureter Alzheimer disease Renal hypoplasia/aplasia Sandal gap Narrow palate Aganglionic megacolon Downturned corners of mouth Open mouth Thick lower lip vermilion Type II diabetes mellitus Microdontia Postural instability Neutropenia Single transverse palmar crease Tremor Myopathy Renal cyst Long penis Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Cavernous hemangioma Cellular immunodeficiency Abnormality of the penis Bone cyst Intestinal polyposis Astrocytoma Abnormality of the uterus Arteriovenous malformation Megalencephaly Prolactin excess Adenoma sebaceum Ovarian carcinoma Lipoma Ductal carcinoma in situ Apnea Ventricular septal defect Cleft palate Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Conjunctival hamartoma Intestinal polyp Dysplastic gangliocytoma of the cerebellum Cutis marmorata telangiectatica congenita Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Papilledema Scaphocephaly Diarrhea Decreased antibody level in blood Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Lymphoma Neoplasm of the skin Abnormal cerebellum morphology Palmoplantar keratoderma Carcinoma Proximal muscle weakness Autism Dilatation Immunodeficiency Lymphopenia Drooling Renal cell carcinoma Abnormality of the thyroid gland Hodgkin lymphoma Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Macule Hemangioma Cutis marmorata Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Incoordination Melanoma Hypopigmented skin patches Ectopic anterior pituitary gland



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