Breast carcinoma, and Blue sclerae

Diseases related with Breast carcinoma and Blue sclerae

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


Top matches:

Medium match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Medium match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Medium match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Mendelian

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

Learn more

Other less relevant matches:

Medium match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

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 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2


PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 Is also known as panhypopituitarism|ateliotic dwarfism with hypogonadism|pituitary dwarfism iii|hanhart dwarfism

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Failure to thrive
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2

Top 5 symptoms//phenotypes associated to Breast carcinoma and Blue sclerae

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Intellectual disability Wide nasal bridge Clinodactyly Strabismus Microcephaly Highly arched eyebrow Synophrys Low-set ears Ventricular septal defect Hypertonia Severe short stature Hypoplasia of the corpus callosum Ptosis Wide intermamillary distance Delayed speech and language development Failure to thrive Abnormal facial shape Intrauterine growth retardation Hydrocephalus Scoliosis Delayed skeletal maturation Abnormal heart morphology Alopecia Depressed nasal bridge Ventriculomegaly Camptodactyly Small hand Delayed eruption of teeth Micrognathia Hypospadias Anteverted nares Hypertrichosis Macrocephaly Cerebellar hypoplasia Tapered finger Neoplasm Brachydactyly Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Single transverse palmar crease Short foot Cutis marmorata Low anterior hairline Short distal phalanx of finger Cognitive impairment High palate Long philtrum Retinal detachment Hypogonadism Hypoglycemia Diabetes mellitus Deeply set eye Posteriorly rotated ears Hirsutism Microphthalmia Syndactyly Increased body weight Optic atrophy Panhypopituitarism Epicanthus Visual impairment Flexion contracture Spasticity Muscular hypotonia of the trunk Retrognathia Aspiration pneumonia Lipodystrophy Hernia Fever Anemia Sensorineural hearing impairment Hearing impairment Absent hand Supernumerary ribs Osteolysis Hyperkeratosis Hyperhidrosis Congestive heart failure Broad finger Proptosis Cafe-au-lait spot Narrow mouth Epidermal acanthosis Webbed neck Triangular face Hypothyroidism Conductive hearing impairment Cleft upper lip Thin vermilion border Growth hormone deficiency Aspiration Small for gestational age Elbow flexion contracture Postnatal growth retardation Pneumonia Perimembranous ventricular septal defect Atrial septal defect Craniosynostosis Finger syndactyly Thick eyebrow Polymicrogyria Bulbous nose Brachycephaly Patent foramen ovale Frontal bossing Motor delay Widely spaced teeth Prominent nasal bridge Cryptorchidism Finger clinodactyly Downturned corners of mouth Protruding ear Telecanthus Muscular hypotonia Short neck Talipes equinovarus Downslanted palpebral fissures Everted lower lip vermilion Cleft palate Prominent forehead Feeding difficulties Long eyelashes Sparse scalp hair Clinodactyly of the 5th finger Constipation Supernumerary nipple Recurrent urinary tract infections Toe syndactyly Deep philtrum Pulmonic stenosis Short metatarsal Hip dislocation Autistic behavior Incoordination Pallor Respiratory tract infection Abnormality of the pinna Pyloric stenosis Hypertrophic cardiomyopathy Self-injurious behavior Proximal placement of thumb Clubbing Tricuspid regurgitation Micromelia Pulmonary hypoplasia Astigmatism Microdontia Spontaneous abortion Choanal atresia Low posterior hairline Renal hypoplasia Torticollis Relative macrocephaly High myopia Congenital diaphragmatic hernia Otitis media Vertigo Aggressive behavior Hypoplasia of the radius Sepsis Renal cyst Microcornea Sleep disturbance High, narrow palate Abnormality of the urinary system Vesicoureteral reflux Hypoplasia of the brainstem Proteinuria Reticulocytopenia Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Snoring Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episcleritis Stiff skin Gastroesophageal reflux Abnormality of the dentition Mandibular prognathia Autism 2-3 toe syndactyly Glaucoma Hyperactivity Inguinal hernia Thrombocytopenia Headache Behavioral abnormality Vomiting Cervical lymphadenopathy Intellectual disability, severe Cardiomyopathy Abnormality of the skeletal system Myopia Hypertension Nystagmus Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Short middle phalanx of finger Ectrodactyly Ectopic kidney Pancreatic adenocarcinoma Hypertension associated with pheochromocytoma Nodular goiter Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Abnormal prolactin level Recurrent paroxysmal headache Osteochondroma Thyroid adenoma Bronchogenic cyst Adrenocortical carcinoma Testicular neoplasm Pituitary prolactin cell adenoma Neoplasm of the breast Enlarged polycystic ovaries Multiple lentigines Schwannoma Red hair Hypoplasia of the musculature Stomach cancer Uterine neoplasm Histiocytoma Parathyroid adenoma Enlarged pituitary gland Small pituitary gland Large sella turcica Prolactin deficiency Hypoglycemic seizures Adrenocorticotropic hormone deficiency Neonatal hypoglycemia Hypopituitarism Adrenal insufficiency Abnormality of the ear Intra-oral hyperpigmentation Cardiac myxoma Abnormality of circulating adrenocorticotropin level Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Profuse pigmented skin lesions Blue nevus Hepatocellular adenoma Pigmented micronodular adrenocortical disease Ovarian cyst Thyroid carcinoma Opisthotonus Abnormality of the gastrointestinal tract Curly eyelashes Gastroparesis Phocomelia Hand oligodactyly Short sternum Peters anomaly Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Hypoplastic labia majora Esophageal stenosis Esophagitis Hiatus hernia Poor appetite Polycythemia Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Hypoplastic male external genitalia Hypertropia Neoplasm of the endocrine system Subcutaneous nodule Pituitary adenoma Prolactin excess Neoplasm of the pancreas Increased circulating cortisol level Growth hormone excess Ovarian neoplasm Colon cancer Hypermelanotic macule Polycystic ovaries Neoplasm of the skin Nevus Left-to-right shunt Sudden cardiac death Stroke Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Episodic fever Plagiocephaly Scleroderma Tethered cord Delayed cranial suture closure High pitched voice Agitation Radial deviation of finger Chordee Pterygium Acanthosis nigricans Sandal gap Accelerated skeletal maturation Decreased body weight Reduced subcutaneous adipose tissue Lower limb hypertonia Type II diabetes mellitus Narrow nasal tip Lymphoma Broad nasal tip Cerebral white matter hypoplasia Inability to walk Short palm Smooth philtrum Anxiety Truncal obesity Multiple cafe-au-lait spots Upslanted palpebral fissure Increased serum insulin-like growth factor 1 Camptodactyly of finger Erythema Umbilical hernia Narrow nasal bridge Cerebral cortical atrophy Spinal canal stenosis Syringomyelia Gait disturbance Cataract Burkitt lymphoma Severe intrauterine growth retardation Hypoplastic facial bones Prominent scalp veins Rieger anomaly Central hypotonia Esodeviation Delayed CNS myelination Abnormality of the rib cage Small face Maternal diabetes Severe failure to thrive Macrotia Sparse hair Attention deficit hyperactivity disorder Cerebral atrophy Congenital cataract Abnormality of the nervous system Hypoplasia of the maxilla Specific learning disability Agenesis of corpus callosum Sloping forehead Optic disc pallor Depressivity Dilatation Pachygyria Iris coloboma Aganglionic megacolon Sparse and thin eyebrow Progressive microcephaly Pointed chin Oligodontia Abnormality of the genitourinary system Sparse eyebrow Bifid scrotum Corneal ulceration Corneal erosion Thick vermilion border Gliosis Pectus excavatum Aplasia cutis congenita of scalp Obesity Malar flattening Coloboma Short philtrum Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Periventricular leukomalacia Oligohydramnios Corpus callosum atrophy Aplasia cutis congenita Short finger Severe global developmental delay Dermal atrophy Cerebral palsy Narrow palpebral fissure Lymphedema Wide anterior fontanel Small nail Skin rash Corneal opacity Lipoatrophy Abnormality of the foot Amenorrhea Decreased testicular size Full cheeks Recurrent fractures Polyneuropathy Flat face Joint hypermobility Ichthyosis Lymphadenopathy Delayed puberty Mitral valve prolapse Malabsorption Hypotrichosis Pectus carinatum Retinopathy Abnormal cardiac septum morphology Apnea Abnormality of the kidney Low-set, posteriorly rotated ears Hepatosplenomegaly Pes planus Overgrowth Bilateral sensorineural hearing impairment Delayed myelination Azoospermia Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Sleep apnea Megalocornea Cardiomegaly Type I diabetes mellitus Hypergonadotropic hypogonadism Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertriglyceridemia Epistaxis Dyspnea Apraxia Oral cleft Eosinophilia Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Hemiplegia/hemiparesis Keratitis Abnormality of dental morphology Encephalitis Hypopigmented skin patches Dystrophic toenail Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Pulmonary arterial hypertension Abnormal blistering of the skin Hypodontia Abnormality of skin pigmentation Abnormal toenail morphology Hypoplastic fingernail Micropenis Oculomotor apraxia Exotropia Short thumb Patent ductus arteriosus Abnormal vertebral morphology Splenomegaly Intellectual disability, mild Edema Clonus Hepatomegaly Hyperreflexia Bilateral ptosis Verrucae Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Retinal hemorrhage Asymmetric growth Hypoplastic toenails Deviation of finger Cerebral ischemia Craniopharyngioma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Glucose intolerance, related diseases and genetic alterations Hyperreflexia and Progressive neurologic deterioration, related diseases and genetic alterations Macrocephaly and Wide nasal bridge, related diseases and genetic alterations Hydrocephalus and Talipes, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more