Breast carcinoma, and Hypoplasia of the maxilla

Diseases related with Breast carcinoma and Hypoplasia of the maxilla

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


Top matches:

High match COWDEN SYNDROME 5; CWS5


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

High match COWDEN SYNDROME 6; CWS6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

High 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

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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

Low match MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

Low match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Low match MEIER-GORLIN SYNDROME 3; MGORS3


Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

Low match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Top 5 symptoms//phenotypes associated to Breast carcinoma and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Narrow mouth Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability 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 Hypoplasia of the maxilla. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Microtia Scoliosis Ectodermal dysplasia Microcephaly Depressed nasal bridge Syndactyly Sparse hair Failure to thrive Myopia Conical tooth Seizures Feeding difficulties Absent eyelashes Cleft lip Hypertelorism Cleft palate Cryptorchidism Breast hypoplasia Underdeveloped nasal alae Microdontia Conductive hearing impairment Finger syndactyly Hypodontia Toe syndactyly Thin skin Delayed speech and language development Palmoplantar keratoderma Hypohidrosis Hypospadias Sparse eyelashes Fine hair Hypotrichosis Global developmental delay Intention tremor Colonic diverticula Kyphosis Pectus excavatum Subcutaneous lipoma Hamartomatous polyposis Ovarian cyst Hypothyroidism Gynecomastia Intellectual disability, mild Skin tags Goiter Hyperthyroidism Thyroiditis Furrowed tongue Hashimoto thyroiditis Hydrocele testis Meningioma Angioid streaks of the fundus Palmoplantar hyperkeratosis High palate Cataract Progressive macrocephaly Varicocele Transitional cell carcinoma of the bladder Thyroid adenoma Fibroadenoma of the breast

Rare Symptoms - Less than 30% cases


Ankyloblepharon Ptosis Wide nasal bridge Atresia of the external auditory canal Abnormal hair pattern Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Clinodactyly of the 5th finger Heat intolerance Hyperconvex nail Shallow orbits Narrow nose Micropenis Talipes equinovarus Flexion contracture Hypoplastic nipples Ventricular septal defect Alopecia Frontal bossing Pain Downslanted palpebral fissures Neoplasm Immunodeficiency Pili torti Motor delay Dry skin Ectrodactyly Cleft upper lip Supernumerary nipple Widely spaced teeth Recurrent otitis media Camptodactyly Agenesis of permanent teeth Small nail Sparse body hair Absent nipple Anhidrosis Protruding ear Intrauterine growth retardation Patent ductus arteriosus Delayed skeletal maturation Brachydactyly Abnormality of the dentition Prominent nasal bridge Slender long bone Malar flattening Short nose Delayed eruption of teeth Intellectual disability, moderate Hypoplastic labia majora High forehead Patellar aplasia Labial hypoplasia Birth length less than 3rd percentile Posteriorly rotated ears Dental malocclusion Thick lower lip vermilion Broad thumb Sparse and thin eyebrow Absent eyebrow Brittle hair Increased intracranial pressure Cutaneous syndactyly Short chin Coxa valga Hoarse voice Growth delay Hypertension Abnormality of the cardiovascular system Taurodontia Periorbital hyperpigmentation Dystrophic fingernails Soft skin Thick nail Dry hair Cystic renal dysplasia Dysphonia Rhinitis Velopharyngeal insufficiency Prominent supraorbital ridges Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Periorbital wrinkles Everted upper lip vermilion Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Anodontia Abnormality of dental enamel Pulmonary hypoplasia Bifid uvula Sparse scalp hair Concave nail Thick vermilion border Aplasia/Hypoplasia of the eyebrow Anterior hypopituitarism Renal dysplasia Depressed nasal ridge Dystrophic toenail Coarse hair Abnormality of the voice Eczema Non-midline cleft lip Type I diabetes mellitus Submucous cleft hard palate Abnormal oral mucosa morphology Generalized hyperpigmentation Everted lower lip vermilion Short distal phalanx of finger Thoracic hypoplasia Decreased number of sweat glands Long uvula Split hand Inflammatory abnormality of the skin Otitis media Sepsis Oral cleft Nail dystrophy Scarring Abnormality of the nervous system Hyperkeratosis Ventral hernia Hyperpigmentation of the skin Absent hair Microtia, third degree Ablepharon Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Excessive wrinkled skin Choanal atresia Sinusitis High-frequency hearing impairment Skin erosion Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Orthokeratosis Plantar hyperkeratosis Selective tooth agenesis Increased body weight Trismus Chronic sinusitis Blepharitis Pustule Keratoconjunctivitis sicca Anonychia 2-3 toe syndactyly Hammertoe Erythroderma Conjunctivitis Aplasia/Hypoplasia of the nipples Corneal erosion Dyspnea Clitoral hypertrophy Hypoplastic labia minora Bronchomalacia Aplasia/Hypoplasia of the patella Sparse pubic hair Sparse axillary hair Calvarial skull defect Severe postnatal growth retardation Tracheomalacia Short thorax Growth abnormality Visual impairment Genu varum Laryngomalacia Scrotal hypoplasia Microretrognathia Coxa vara Recurrent pneumonia Short ribs Triangular face Narrow chest Gastroesophageal reflux Absent sternal ossification Anteverted nares Abnormality of finger Omphalocele Hypoplasia of the zygomatic bone Abnormality of the mouth Ectropion Sparse eyebrow Redundant skin Sacral dimple Abnormality of the outer ear Cutis laxa Abnormality of the genital system Hypertrichosis Hernia Interphalangeal joint contracture of finger Hypoplasia of penis Ambiguous genitalia Short metacarpal Thin vermilion border Abnormality of skin pigmentation Corneal opacity Camptodactyly of finger Abnormality of the pinna Umbilical hernia Wide mouth Neoplasm of the central nervous system Respiratory tract infection Lambdoidal craniosynostosis Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Congenital adrenal hyperplasia Neoplasm of the breast Craniofacial dysostosis Lacrimal duct stenosis Anterior plagiocephaly Mild hearing impairment Oxycephaly Buphthalmos Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Abnormality of the antihelix Short columella Coronal craniosynostosis Abnormality of the skull Craniofacial asymmetry Narrow internal auditory canal External ear malformation Generalized hypotonia Myopathy Atrial septal defect Hydrocephalus Tremor Macrocephaly Skeletal muscle atrophy Cognitive impairment Muscle weakness Ataxia Cleft of chin Skull asymmetry Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Renotubular dysgenesis Prominent crus of helix Proximal radio-ulnar synostosis Premature closure of fontanelles Duplication of the distal phalanx of hand Deviated nasal septum Bilateral cleft lip Abnormality of digit Headache Brachycephaly Facial asymmetry Broad forehead Craniosynostosis Hyperlordosis Low-set, posteriorly rotated ears Telecanthus Mandibular prognathia Proptosis Abnormal heart morphology Single transverse palmar crease Clinodactyly Midface retrusion Abnormality of cardiovascular system morphology Abnormality of the skeletal system Optic atrophy Epicanthus Abnormal facial shape Sensorineural hearing impairment Strabismus Flat face Migraine Vertebral fusion Abnormality of pelvic girdle bone morphology Long nose Delayed cranial suture closure Broad hallux Hallux valgus Open bite Epiphora Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of the genitourinary system Convex nasal ridge Sleep apnea Plagiocephaly Narrow palate Elbow flexion contracture Bilateral single transverse palmar creases Low anterior hairline Amblyopia Abnormal form of the vertebral bodies Hypotelorism Diarrhea Dilatation Hyperhidrosis Papilloma Follicular thyroid carcinoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Adenoma sebaceum Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Fibroma Enlarged polycystic ovaries Colorectal polyposis Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Astrocytoma Abnormality of the uterus Arteriovenous malformation Megalencephaly Endometrial carcinoma Pseudopapilledema Papilledema Lobular carcinoma in situ Prominent forehead Recurrent respiratory infections Intellectual disability, severe Respiratory distress Fever Lateral clavicle hook Genu recurvatum Thoracic scoliosis Emphysema Multiple trichilemmomata Mucosal telangiectasiae Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Acrokeratosis Prolactin excess Abnormality of the vasculature Recurrent infections Macroglossia Lymphopenia Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Overgrowth Decreased antibody level in blood Lymphoma Abnormal cerebellum morphology Cranial nerve paralysis Polymicrogyria Joint hypermobility Nausea and vomiting Papule Leukemia Abnormality of the kidney Carcinoma Proximal muscle weakness Autism Neoplasm of the skin Drooling Lipoma Multiple lipomas Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Abnormality of the thyroid gland Hemangioma Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Melanoma Hypopigmented skin patches Otitis externa



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