Abnormal facial shape, and Breast carcinoma

Diseases related with Abnormal facial shape and Breast carcinoma

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


Top matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

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

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match APOCRINE GLAND SECRETION, VARIATION IN


APOCRINE GLAND SECRETION, VARIATION IN Is also known as cerumen, variation in|wet wax|ww|colostrum secretion, variation in|ear wax, wet/dry|axillary odor, variation in|ewwd

Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Abnormality of the ear


SOURCES: OMIM MENDELIAN

More info about APOCRINE GLAND SECRETION, VARIATION IN

Low match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Breast carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Breast carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormality of cardiovascular system morphology Convex nasal ridge Hydrocephalus Osteoporosis Hypogonadism Leukemia Decreased fertility Type II diabetes mellitus Abnormal heart morphology Prematurely aged appearance Meningioma Narrow palate Abnormality of the skeletal system Malar flattening Cryptorchidism Brachydactyly Conductive hearing impairment Hypertelorism Hearing impairment Failure to thrive Anemia Epicanthus

Rare Symptoms - Less than 30% cases


Renal neoplasm Obesity Thin vermilion border Progeroid facial appearance Osteosarcoma Microtia Facial asymmetry Abnormality of the cerebral vasculature Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Neoplasm of the lung Secondary amenorrhea Flat face Intrauterine growth retardation Abnormality of the testis Single transverse palmar crease Polydactyly Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Micrognathia Premature graying of hair High pitched voice Rocker bottom foot Clinodactyly of the 5th finger Pili torti Cleft lip White forelock Scoliosis Midface retrusion Syndactyly Premature ovarian insufficiency Brachycephaly Depressed nasal bridge Intellectual disability, mild Low-set ears Ptosis Delayed speech and language development Cleft palate Strabismus Seizures Cognitive impairment Muscular hypotonia Generalized hypotonia Neoplasm of the oral cavity Premature arteriosclerosis Hypopigmentation of the skin Neoplasm of the small intestine Subcutaneous calcification Sparse body hair Abnormal hair whorl Soft tissue sarcoma Microcephaly Abnormality of the voice Bilateral single transverse palmar creases Abnormality of the thorax Deeply set eye Congestive heart failure Upslanted palpebral fissure Neoplasm of the breast Reduced bone mineral density Proptosis Micropenis Hyperkeratosis Diabetes mellitus Alopecia Behavioral abnormality Abnormality of the dentition Skeletal muscle atrophy Small hand Peripheral neuropathy Carcinoma Visual impairment Cataract Pain Duodenal stenosis Complete atrioventricular canal defect Sandal gap Prominent nasal bridge Low anterior hairline Dental malocclusion Retinal degeneration Growth delay Clinodactyly Short palm Sarcoma Laryngomalacia Specific learning disability Atherosclerosis Hypotrichosis Hypergonadotropic hypogonadism Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Mitral valve prolapse Decreased testicular size Abnormality of retinal pigmentation Decreased body weight Postaxial polydactyly Aganglionic megacolon Open mouth Postural instability Broad palm Hydronephrosis Atrioventricular canal defect Hydroureter Alzheimer disease Cholelithiasis Renal hypoplasia/aplasia Macroglossia Umbilical hernia Downturned corners of mouth Hypothyroidism Depressed nasal ridge Short nose Developmental regression Narrow mouth Anal atresia Neutropenia Joint laxity Recurrent infections Thick lower lip vermilion Microdontia Dementia Edema Thrombocytopenia Adrenal hypoplasia Short neck Carcinoid tumor Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Leiomyosarcoma Night sweats Anomalous pulmonary venous return Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Fibular bowing Dural ectasia Gait disturbance Abnormality of blood and blood-forming tissues Myopia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Epigastric pain Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Transposition of the great arteries Finger clinodactyly Abnormality of immune system physiology Microphallus Bulbous nose Small for gestational age Neonatal hypotonia Delayed skeletal maturation Abnormality of the ear Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Gynecomastia Intervertebral disc degeneration Neoplasm of the thyroid gland Abnormality of the Achilles tendon Fasting hyperinsulinemia Aortic valve calcification Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery Exercise-induced myalgia Short foot Truncal obesity Osteolytic defects of the phalanges of the hand Micromelia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Depressed nasal tip Holoprosencephaly Barrel-shaped chest Ambiguous genitalia Wide intermamillary distance Oral cleft Cleft upper lip Abnormality of the pinna Increased circulating gonadotropin level Shield chest Agenesis of corpus callosum Hypospadias Ventriculomegaly Wide nasal bridge Primary testicular failure Ulnar deviation of the hand Abdominal obesity Decreased serum testosterone level Prominent superficial veins Fragile nails Impaired pain sensation Acute monocytic leukemia Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Pulmonary edema Hypoxemia Senile plaques Crackles Hypoplastic iliac wing Double outlet right ventricle Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Protruding tongue Polycythemia Neurofibrillary tangles Congenital hypothyroidism Atlantoaxial instability Transient myeloproliferative syndrome Insulin-resistant diabetes mellitus Thin skin Glycosuria Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Calf muscle hypertrophy Hyperglycemia Increased reactive oxygen species production Hyperinsulinemia Neoplasm of the skin Aortic valve stenosis Hypertriglyceridemia Brushfield spots Hip dysplasia Limitation of joint mobility Hepatic steatosis Delayed puberty Congenital cataract Pes planus Acute megakaryocytic leukemia Left-to-right shunt Round ear Gangrene Macrocephaly Overweight Mandibular prognathia Broad forehead Craniosynostosis Protruding ear Hyperlordosis Low-set, posteriorly rotated ears Intellectual disability, moderate Telecanthus High forehead Posteriorly rotated ears Toe syndactyly Optic atrophy Flexion contracture Sensorineural hearing impairment Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Gastrointestinal carcinoma Poliosis Chorioretinitis Cutaneous melanoma Finger syndactyly Hypoplasia of the maxilla Arteriosclerosis Abnormality of the genitourinary system Broad hallux Hallux valgus Open bite Epiphora Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Increased intracranial pressure Migraine Sleep apnea Cutaneous syndactyly Plagiocephaly Coxa valga Elbow flexion contracture Amblyopia Broad thumb Abnormal form of the vertebral bodies Hypotelorism Narrow nasal ridge Enlarged joints Long nose Thick upper lip vermilion Coma Nephropathy Retinopathy Joint stiffness Rod-cone dystrophy Ovarian carcinoma Macrodontia Stomach cancer Chromosome breakage Myocardial infarction Proximal placement of thumb Bone marrow hypocellularity Long eyelashes Hip dislocation Blepharophimosis Sparse hair Coarse facial features Microphthalmia Anteverted nares Chest pain Sparse scalp hair Thyroid carcinoma Squamous cell carcinoma Slender build Posterior subcapsular cataract Pulmonary artery stenosis Alopecia of scalp Premature loss of teeth Subcapsular cataract Myeloid leukemia Scleroderma Polyphagia Polyuria Insulin resistance Polydipsia Myelodysplasia Lipodystrophy Dermal atrophy Melanoma Macular degeneration Type I diabetes mellitus Spontaneous abortion Hoarse voice Delayed cranial suture closure Vertebral fusion Severe vision loss Pulmonic stenosis Gastrointestinal hemorrhage Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Genu valgum Malabsorption Pruritus Tetralogy of Fallot Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Autism Weight loss Overgrowth Abnormality of the cardiovascular system Hyperactivity Sensory axonal neuropathy Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Clitoral hypertrophy Coarctation of aorta Precocious puberty Back pain Incoordination Venous thrombosis Spina bifida Sensorimotor neuropathy Bone pain Cafe-au-lait spot Hypsarrhythmia Glaucoma Visual loss Abnormality of digit Bilateral cleft lip and palate Congenital adrenal hyperplasia Craniofacial dysostosis Lacrimal duct stenosis Lambdoidal craniosynostosis Anterior plagiocephaly Oxycephaly Buphthalmos Abnormal hair pattern Adrenal hyperplasia Abnormal nasolacrimal system morphology Blepharospasm Abnormality of the antihelix Short columella Coronal craniosynostosis Abnormality of the skull Bilateral cleft lip Shallow orbits Narrow nose External ear malformation Parietal foramina Flat forehead Depressivity Partial duplication of the distal phalanx of the 3rd finger Dilatation Headache Blindness Cardiomyopathy Respiratory insufficiency Dysarthria Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Renotubular dysgenesis Adrenogenital syndrome Prominent crus of helix 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 Ulnar deviation of the hand or of fingers of the hand



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Microtia, related diseases and genetic alterations Microphthalmia and Syncope, related diseases and genetic alterations Congestive heart failure and Proximal muscle weakness, related diseases and genetic alterations Ptosis and Limb-girdle muscular dystrophy, related diseases and genetic alterations Failure to thrive and Hepatocellular carcinoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more