Breast carcinoma, and Bifid uvula

Diseases related with Breast carcinoma and Bifid uvula

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


Top matches:

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Medium match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium 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

Medium match ALG3-CDG


ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Medium match BRANCHIOSKELETOGENITAL SYNDROME


Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Medium match EAR-PATELLA-SHORT STATURE SYNDROME


Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Medium match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Top 5 symptoms//phenotypes associated to Breast carcinoma and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Short stature Generalized hypotonia Low-set ears Strabismus Hearing impairment Wide nasal bridge High palate Posteriorly rotated ears Abnormality of the pinna Short philtrum Smooth philtrum Hypertelorism Microcephaly Hypospadias Wide intermamillary distance Hypoplasia of the corpus callosum Failure to thrive Syndactyly Submucous cleft hard palate Micrognathia Feeding difficulties Delayed speech and language development Epicanthus Camptodactyly Long philtrum Absent speech Prominent forehead Thin upper lip vermilion Hypoplasia of the maxilla High forehead Clinodactyly of the 5th finger Thin vermilion border Hypogonadism Short palpebral fissure Bulbous nose Facial asymmetry Pectus carinatum Intellectual disability, moderate Narrow mouth Brachycephaly Talipes equinovarus Pectus excavatum Growth delay Coloboma Micropenis Abnormality of the dentition Downslanted palpebral fissures Scoliosis Joint contracture of the hand Cataract Clinodactyly

Rare Symptoms - Less than 30% cases


Narrow forehead Arachnodactyly Retrognathia Arthrogryposis multiplex congenita Long fingers Spontaneous abortion Thick lower lip vermilion High, narrow palate Respiratory distress Joint laxity Frontal bossing Synophrys Prominent nasal bridge Hyperconvex nail Low-set, posteriorly rotated ears Mandibular prognathia Postnatal growth retardation Polydactyly Umbilical hernia Hernia Ventricular septal defect Postaxial polydactyly Cerebral atrophy Narrow nose Renal dysplasia Thick vermilion border Broad forehead Submucous cleft soft palate Small nail Craniosynostosis Optic atrophy Delayed eruption of teeth Ventriculomegaly Cleft upper lip Small hand Finger syndactyly Tapered finger Cerebellar hypoplasia Hypoplastic labia majora Dandy-Walker malformation Anal atresia Thin skin Severe global developmental delay Anteverted nares Inguinal hernia Hypoplasia of penis Iris coloboma Hypodontia Ectodermal dysplasia Downturned corners of mouth Wide nose Nail dysplasia Small for gestational age Protruding ear Widely spaced teeth Muscular hypotonia of the trunk Telecanthus Agenesis of corpus callosum Short nose Blindness Hypohidrosis Intellectual disability, severe Hypoplastic nipples Ectrodactyly Microretrognathia Highly arched eyebrow Muscular hypotonia External genital hypoplasia Prominent nasal tip Partial agenesis of the corpus callosum Ptosis Myopia Coxa valga Genu valgum Respiratory failure Dyspnea Advanced pneumatization of the mastoid process Gastroesophageal reflux Genu varum Microphthalmia Upper limb peromelia Feeding difficulties in infancy Lagopthalmos Blepharophimosis Camptodactyly of finger Microtia Abnormality of the outer ear Joint hyperflexibility Abnormality of the vertebral spinous processes Talipes Abnormality of the shape of the midface Short chin Joint hypermobility Short palm Specific learning disability Microdontia Abnormality of the ribs Abnormality of dentin Long eyelashes Abnormality of epiphysis morphology Short ribs Increased body weight Hemivertebrae Severe short stature Anophthalmia Delayed skeletal maturation Sacral dimple Hydronephrosis Hypermetropia Anosmia Astigmatism Gynecomastia Amblyopia Short foot Pes cavus Prominent nose Hip dysplasia Recurrent respiratory infections Hypotelorism Hypertrichosis Choanal atresia Abnormality of the genitourinary system Hip dislocation Unilateral breast hypoplasia Visual loss Amelia involving the lower limbs Abnormality of the skeletal system Intrauterine growth retardation Abdominal wall muscle weakness Hyposmia Atrial septal defect Abnormal cortical gyration Patent ductus arteriosus Atresia of the external auditory canal Abnormality of thyroid physiology Misalignment of teeth Flared nostrils Lower limb asymmetry Abnormality of pelvic girdle bone morphology Thin ribs Elbow dislocation Postaxial hand polydactyly Preaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Preauricular skin tag Wide anterior fontanel Omphalocele Open mouth Esotropia Diabetes insipidus Retinal dystrophy Toe syndactyly Abnormal cardiac septum morphology Apnea Hypothyroidism Abnormal heart morphology Abnormality of cardiovascular system morphology Preaxial hand polydactyly Prominent occiput Brachydactyly Hypopigmentation of the fundus Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Triangular mouth Hypoplasia of teeth Molar tooth sign on MRI Rectovaginal fistula Preaxial foot polydactyly Diastasis recti Postaxial foot polydactyly Arachnoid cyst Anencephaly Abnormality of digit Macrocephaly Hypertension Clitoral hypertrophy Shawl scrotum Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Anotia Patellar aplasia Breech presentation Aseptic necrosis Cutaneous finger syndactyly Aplasia/Hypoplasia of the patella Rootless teeth Disproportionate short stature Slender long bone Severe hearing impairment Emphysema Bilateral talipes equinovarus Mild short stature Lateral clavicle hook Aplastic clavicle Sensorineural hearing impairment Short ear Nystagmus Ataxia Morgagni diaphragmatic hernia Absent glenoid fossa Incomplete partition of the cochlea type II Flat glenoid fossa Microtia, third degree Absent sternal ossification Epispadias Abnormality of the patella Small anterior fontanelle Mandibular aplasia Birth length less than 3rd percentile Hypoplastic labia minora Clitoral hypoplasia Breast aplasia Unilateral cleft palate Abnormality of the cervical spine Blepharochalasis Deeply set eye Abnormality of dental enamel Sparse and thin eyebrow Dystonia Recurrent otitis media Fine hair Underdeveloped nasal alae Palmoplantar keratoderma Coarse hair Pulmonary hypoplasia Hypotrichosis Sparse hair Cleft lip Conductive hearing impairment Alopecia Neurological speech impairment Sparse eyelashes Abnormality of the voice Asymmetry of the ears Dry hair Velopharyngeal insufficiency Spasticity Ankyloblepharon Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Thick nail Supernumerary nipple Conical tooth Dystrophic fingernails Pili torti Dystrophic toenail Motor delay Generalized hyperpigmentation Non-midline cleft lip Round face Long palm Hyperconvex fingernails Abnormality of movement Generalized myoclonic seizures Postural instability Recurrent fractures Long nose Unsteady gait Prominent metopic ridge Bruxism High myopia Long upper lip Difficulty walking Kyphoscoliosis Cognitive impairment Dysarthria Osteoporosis Myoclonus Webbed neck Intellectual disability, profound Focal motor seizures Absence seizures Narrow palm Long hallux Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Disproportionate tall stature Broad-based gait Decreased muscle mass Sparse eyebrow Nasal speech Narrow face Hyperpigmentation of the skin Dental crowding Tall stature Trichodysplasia Absent lacrimal punctum Abnormality of the sella turcica Pointed chin Thickened calvaria Abnormality of the vertebral column Mixed hearing impairment Keratitis Bifid scrotum Cutaneous syndactyly Failure of eruption of permanent teeth Premature loss of teeth Dental malocclusion Broad nasal tip Single naris Thick eyebrow Flat face Carious teeth Absent nares Anteriorly placed anus Megalocornea Hypoplasia of the olfactory bulb Penoscrotal hypospadias Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Periorbital wrinkles Phthisis bulbi Multiple impacted teeth Thoracolumbar kyphoscoliosis Ureteral stenosis Thoracolumbar scoliosis Bladder exstrophy Gait disturbance Absent nipple Cleft soft palate Concave nasal ridge Large earlobe Eyelid coloboma Abnormality of the midface Proptosis Pili canaliculi Vomiting Abnormality of the eye Macrotia Gonadal dysgenesis Hypertonia Diarrhea Cerebellar atrophy Hyperreflexia Hypergonadotropic hypogonadism Visual impairment Flexion contracture Split foot Decreased number of sweat glands Progressive alopecia Small, conical teeth Lacrimal duct atresia Hallux valgus Hypsarrhythmia Glaucoma Food intolerance Midface retrusion Recurrent infections Malar flattening Amenorrhea Short neck Primary amenorrhea Split hand Clinodactyly of the 5th toe Cerebral visual impairment Type I transferrin isoform profile Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Severe vision loss Abnormality of vision Adducted thumb Pulmonary valve defects



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Muscular hypotonia of the trunk, related diseases and genetic alterations Hydrocephalus and Corneal opacity, related diseases and genetic alterations Myopathy and Ventricular septal defect, related diseases and genetic alterations Cryptorchidism and Hip dysplasia, related diseases and genetic alterations

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