Breast carcinoma, and Midface retrusion

Diseases related with Breast carcinoma and Midface retrusion

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


Top matches:

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

Medium 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

Medium match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

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Other less relevant matches:

Medium match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Medium match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Medium match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Medium match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Medium match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Top 5 symptoms//phenotypes associated to Breast carcinoma and Midface retrusion

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Wide intermamillary distance Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Midface retrusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Syndactyly Wide nasal bridge Toe syndactyly Finger syndactyly Scrotal hypoplasia Cleft lip Oral cleft Downslanted palpebral fissures Posteriorly rotated ears Delayed speech and language development Short neck Micrognathia Microdontia Nail dysplasia Hearing impairment Hypertelorism Depressed nasal bridge Synophrys Low-set ears Cryptorchidism Abnormal facial shape Hypodontia Ectodermal dysplasia Scoliosis Bilateral cleft lip and palate Cleft upper lip Bilateral single transverse palmar creases Protruding ear Hyperlordosis Abnormality of dental morphology Carious teeth Nail dystrophy Abnormality of the pinna Macrotia Broad neck Generalized hypotonia Deeply set eye Short stature Epicanthus Brachydactyly

Rare Symptoms - Less than 30% cases


Highly arched eyebrow Hypohidrosis Neurological speech impairment Sparse and thin eyebrow Abnormality of dental enamel Aggressive behavior Sparse eyelashes Palmoplantar hyperkeratosis Inverted nipples Cutaneous finger syndactyly Abnormality of the ureter Sparse hair Dystrophic toenail Sparse lateral eyebrow Dystrophic fingernails Pili torti Cutaneous syndactyly of toes Lacrimal duct stenosis Abnormality of the philtrum Anodontia Abnormality of the dentition Hypospadias Upslanted palpebral fissure Low posterior hairline Pes planus Hypoplasia of the corpus callosum Freckling Tapered finger Muscle weakness Sparse scalp hair Bulbous nose Hirsutism EEG abnormality Dry skin Hypotrichosis Hyperhidrosis Alopecia Leukemia Downturned corners of mouth Recurrent respiratory infections Micropenis Hypogonadism Progressive hypotrichosis Abnormality of the ear Macrocephaly Optic atrophy Flat face Telecanthus Low-set, posteriorly rotated ears Brachycephaly Clinodactyly of the 5th finger Broad hallux Microtia Abnormality of the skeletal system Clinodactyly Narrow palate Bilateral cleft lip Flexion contracture Broad forehead Ptosis Microcephaly Sensorineural hearing impairment Strabismus Prominent nasal bridge Narrow forehead Sensorimotor neuropathy Pectus excavatum Narrow mouth Exotropia Osteopenia Blepharophimosis Specific learning disability Short palm Webbed neck Short palpebral fissure Overfolded helix Microphthalmia Ureterocele Peripheral demyelination Atrial septal defect Pulmonic stenosis Microcornea Spotty hypopigmentation Tented upper lip vermilion Increased body weight Absent speech Pontocerebellar atrophy Cone dysfunction syndrome Wide mouth Poor speech Thin vermilion border Short foot Hypopigmentation of the skin Absent Achilles reflex Atrophy/Degeneration affecting the brainstem Generalized hirsutism Motor delay Prominent supraorbital ridges Myeloid leukemia Acute myeloid leukemia Steppage gait Echolalia Broad face Abnormal hair whorl Almond-shaped palpebral fissure Regional abnormality of skin Hypointensity of cerebral white matter on MRI Progressive visual loss Anteverted ears Sensory impairment Dysphagia Babinski sign Hyporeflexia Areflexia Triangular face Visual loss Hypertonia Cerebellar atrophy Respiratory distress Abnormal dermatoglyphics Brittle hair Aplasia/Hypoplasia of the eyebrow Anteverted nares Tremor Pes cavus Hypoplasia of the zygomatic bone Skeletal muscle atrophy Hyperreflexia Peripheral neuropathy Visual impairment Spasticity Muscular hypotonia Failure to thrive Nystagmus Pterygium Scaling skin Anhidrosis Cerebellar hypoplasia Abnormality of the kidney Ataxia Axillary freckling Polyneuropathy Sensory neuropathy Relative macrocephaly Distal sensory impairment Distal amyotrophy Lactic acidosis Cubitus valgus Neurofibromas Multiple cafe-au-lait spots Acute lymphoblastic leukemia Secundum atrial septal defect Lisch nodules Dysmetria Myoclonus Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma Pectus excavatum of inferior sternum Abnormality of the cerebral white matter Inguinal freckling Severe global developmental delay Pallor Irritability Difficulty walking Polyhydramnios Acidosis Respiratory failure Cafe-au-lait spot Alopecia of scalp Agitation Abnormal hair pattern Hallux valgus Delayed cranial suture closure Long nose Vertebral fusion Abnormality of digit External ear malformation Narrow nose Shallow orbits Abnormality of the skull Coronal craniosynostosis Short columella Abnormality of the antihelix Blepharospasm Adrenal hyperplasia Buphthalmos Epiphora Flat forehead Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Abnormal nasolacrimal system morphology Oxycephaly Parietal foramina Congenital adrenal hyperplasia Neoplasm of the breast Craniofacial dysostosis Lambdoidal craniosynostosis Anterior plagiocephaly Open bite Triphalangeal thumb Premature closure of fontanelles Dental malocclusion Neoplasm Hypertension Abnormality of cardiovascular system morphology Abnormal heart morphology Proptosis Mandibular prognathia High forehead Conductive hearing impairment Intellectual disability, moderate Craniosynostosis Facial asymmetry Single transverse palmar crease Hypoplasia of the maxilla Migraine Convex nasal ridge Trigonocephaly Cutaneous syndactyly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Abnormality of the genitourinary system Increased intracranial pressure Sleep apnea Plagiocephaly Hypotelorism Coxa valga Elbow flexion contracture Low anterior hairline Amblyopia Broad thumb Abnormal form of the vertebral bodies Duplication of the distal phalanx of hand Proximal radio-ulnar synostosis Full cheeks Lacrimal duct atresia Dermal atrophy Melanocytic nevus Hypoplastic nipples Ectrodactyly Split foot Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Nail pits Conical incisor Conjunctivitis Coarse facial features Sleep disturbance Thick eyebrow Astigmatism Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Hyperactivity Premature loss of permanent teeth Prominent forehead Constipation Behavioral abnormality Myopia Feeding difficulties Adermatoglyphia Oligodontia Finger clinodactyly Prominent crus of helix Agenesis of corpus callosum Holoprosencephaly Sandal gap Ambiguous genitalia Postaxial polydactyly Micromelia Polydactyly Hydrocephalus Adrenal hypoplasia Ventriculomegaly Cleft of chin 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 Aplasia/Hypoplasia of the corpus callosum Depressed nasal tip Abnormality of the nail Fine hair Skin ulcer Abnormality of the face Thin skin Split hand Inflammatory abnormality of the skin Cutaneous photosensitivity Eczema Barrel-shaped chest Anal atresia Camptodactyly Ulnar deviation of the hand or of fingers of the hand Microphallus Ulnar deviation of the hand Shield chest Trophic changes related to pain



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Coma, related diseases and genetic alterations Dysarthria and Cerebellar vermis hypoplasia, related diseases and genetic alterations Macrocephaly and Joint hypermobility, related diseases and genetic alterations Depressed nasal bridge and Flat face, related diseases and genetic alterations Flexion contracture and Waddling gait, related diseases and genetic alterations Ataxia and Lymphadenopathy, related diseases and genetic alterations Edema and Dysarthria, related diseases and genetic alterations

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