Breast carcinoma, and Arthrogryposis multiplex congenita

Diseases related with Breast carcinoma and Arthrogryposis multiplex congenita

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


Top matches:

Medium match RFT1-CDG


RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Medium match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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Other less relevant matches:

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

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 MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Medium match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Medium match MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS


Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

Top 5 symptoms//phenotypes associated to Breast carcinoma and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Failure to thrive Hearing impairment Wide intermamillary distance Talipes equinovarus Global developmental delay Adducted thumb High palate Ptosis Muscular hypotonia of the trunk Epicanthus Growth delay Cleft palate Cryptorchidism Intellectual disability Strabismus Short stature Cerebral atrophy Visual impairment Respiratory insufficiency Congenital contracture Hypoplasia of the corpus callosum Myopathy Feeding difficulties Cognitive impairment Abnormal facial shape Areflexia Narrow mouth Macrotia Arachnodactyly Long philtrum Kyphosis Skeletal muscle atrophy Wide nasal bridge Sensorineural hearing impairment Pectus excavatum Distal arthrogryposis Scoliosis Camptodactyly Mask-like facies Joint contracture of the hand Hyperreflexia Blepharophimosis

Rare Symptoms - Less than 30% cases


Inguinal hernia Popliteal pterygium Joint stiffness Facial palsy Finger syndactyly Micropenis Ophthalmoplegia Corneal opacity Hypospadias Hernia Short nose Multiple cafe-au-lait spots Alopecia Aplasia/Hypoplasia of the radius Decreased fetal movement Open mouth Talipes Microphthalmia Clinodactyly Syndactyly Small nail Hypertonia Low-set ears Hypertelorism Long fingers Abnormality of the genital system Bilateral single transverse palmar creases Delayed myelination Abnormality of the pinna Pterygium Congestive heart failure Diarrhea Abnormality of the skeletal system Multiple joint contractures Hypoplastic nipples Deeply set eye Rocker bottom foot Ventriculomegaly Respiratory distress Intrauterine growth retardation Abnormality of the foot Optic atrophy Intellectual disability, severe Hepatomegaly Spasticity Recurrent infections Nystagmus Inverted nipples Severe muscular hypotonia Decreased palmar creases Congenital finger flexion contractures Round ear Keratoglobus Hypoplastic heart Ulnar deviation of the wrist Duane anomaly Bilateral camptodactyly Absent phalangeal crease Unilateral ptosis Retinal fold Tapetoretinal degeneration Antecubital pterygium Decreased facial expression Limited wrist extension Camptodactyly of toe Cleft lip Pes planus Obesity Abnormality of cardiovascular system morphology Clitoral hypoplasia Multiple pterygia Talipes calcaneovalgus Amyoplasia Prune belly Cervical C2/C3 vertebral fusion Internally rotated shoulders Exophoria Firm muscles Abnormality of the rib cage Axillary pterygium Hypoventilation Overlapping fingers Retinopathy Webbed neck Triangular face Abnormality of skin pigmentation Astigmatism Abnormality of eye movement Hypermetropia Protruding ear Abnormal lung morphology Hyperlordosis Anterior clefting of vertebral bodies Hypertension Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Lumbar hyperlordosis Abnormality of retinal pigmentation Neck pterygia Vertebral segmentation defect Intercrural pterygium Ulnar deviation of finger Keratoconus Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Restrictive ventilatory defect Absence of labia majora Macular dystrophy Decreased muscle mass Exostosis of the external auditory canal Bilateral talipes equinovarus Bilateral ptosis Abnormal electroretinogram Narrow face Toe syndactyly Adactyly Confusion Labial hypoplasia Sparse or absent eyelashes Congenital diaphragmatic hernia Short sternum Abnormal vertebral morphology Aortic regurgitation Alopecia totalis Prominent superficial veins Dental malocclusion Cutaneous syndactyly Eyelid coloboma Hypoplastic scapulae Hypoplastic labia majora Neonatal respiratory distress Osteopetrosis Absent eyelashes Ankyloblepharon Aplasia/Hypoplasia of the distal phalanges of the toes Anal stenosis Umbilical hernia Oral synechia Sparse lower eyelashes Bilateral cleft palate Symblepharon Downslanted palpebral fissures Hypoplastic male external genitalia Hypogonadism Conductive hearing impairment Downturned corners of mouth Synostosis of joints Abnormality of the kidney Respiratory tract infection Hip dislocation Delayed puberty Long face Pulmonary hypoplasia Median cleft lip Aplasia cutis congenita Unilateral renal hypoplasia Renal hypoplasia Cafe-au-lait spot Short phalanx of finger Patellar aplasia Rib fusion Omphalocele Sparse scalp hair Short palpebral fissure Fused cervical vertebrae Male hypogonadism Ambiguous genitalia Diaphragmatic eventration Underdeveloped nasal alae Hypoplasia of the maxilla Oral cleft Long clavicles Cleft upper lip Short thumb Opacification of the corneal stroma Facial cleft Hypoplastic toenails Absent thumb Truncal obesity Vertebral fusion Dislocated radial head Down-sloping shoulders Aplasia/Hypoplasia of the eyebrow Anonychia Bilateral cryptorchidism Narrow palpebral fissure Absent eyebrow Cupped ear Ectropion Abnormality of the neck Furrowed tongue Renal hypoplasia/aplasia Sacral dimple Skin tags Cranial nerve paralysis Abnormality of the ear Muscle weakness Hypoplasia of penis Narrow chest Dolichocephaly Camptodactyly of finger Abnormality of metabolism/homeostasis Gait disturbance Progressive leukoencephalopathy Abnormality of the fingernails Frontoparietal polymicrogyria Diffuse leukoencephalopathy Psychomotor deterioration Primitive reflex Severe lactic acidosis Pendular nystagmus Loss of speech Interphalangeal joint contracture of finger Respiratory insufficiency due to muscle weakness Opisthotonus Proximal spinal muscular atrophy Hepatosplenomegaly Jaundice Abnormal heart morphology Thrombocytopenia Behavioral abnormality Fever Anemia Skin dimples Failure to thrive in infancy Microphallus Degeneration of anterior horn cells Tongue fasciculations Thickened nuchal skin fold Myopathic facies Proximal placement of thumb Spinal muscular atrophy Episodic fever Agitation Proteinuria Stroke-like episode Edema Bilateral basal ganglia lesions Abnormal isoelectric focusing of serum transferrin Abnormality of the posterior cranial fossa Hyperintensity of cerebral white matter on MRI Pes valgus Abnormal thrombosis Abnormality of coagulation Respiratory failure Mild short stature Abnormality of the coagulation cascade Abnormal bleeding Reduced visual acuity Cerebral cortical atrophy Myoclonus Ataxia Encephalopathy Acidosis Hypoplasia of the brainstem Tetraplegia Abnormality of mitochondrial metabolism Leukoencephalopathy Spastic tetraparesis Leukodystrophy Tetraparesis Spastic tetraplegia Brain atrophy Metabolic acidosis Polyhydramnios Polymicrogyria Lactic acidosis Abnormality of the cerebral white matter Abnormal pyramidal sign Irritability Developmental regression Retrognathia Elevated hepatic transaminase Hypertrophic cardiomyopathy Congenital muscular dystrophy Absent hand Agenesis of corpus callosum Cerebellar hypoplasia Cataract Aplasia of the pectoralis major muscle Aplasia/Hypoplasia of the tongue Aplasia/Hypoplasia involving the metacarpal bones Abnormality of the sense of smell Breast aplasia Kyphoscoliosis Abnormality of the ulna Blepharitis Aplasia/Hypoplasia of the thumb Abnormality of the voice Reduced number of teeth Hypogonadotrophic hypogonadism Microdontia Osteoporosis Prominent nasal bridge Feeding difficulties in infancy Cerebral calcification Knee flexion contracture Coxa valga Elbow flexion contracture Insulin resistance Cutaneous photosensitivity Intellectual disability, profound Sloping forehead Peripheral demyelination Muscular dystrophy Neuronal loss in central nervous system Prominent nose Gliosis Neurodegeneration Hirsutism Thin vermilion border Congenital cataract Everted lower lip vermilion Autism Abnormality of the liver Areflexia of lower limbs Absent speech Cerebellar atrophy Vomiting Blindness Depressed nasal bridge Mild proteinuria Abnormal glycosylation Premature skin wrinkling Coloboma Protruding tongue Abnormality of immune system physiology Cholestasis Dehydration Polyneuropathy Thick vermilion border Flat face Abnormality of the eye Severe global developmental delay Clinodactyly of the 5th finger Decreased light- and dark-adapted electroretinogram amplitude Dysphagia Brachydactyly Motor delay Food intolerance Clinodactyly of the 5th toe Type I transferrin isoform profile Portal fibrosis Villous atrophy Bulbous nose Severe vision loss Abnormality of vision Cerebral visual impairment Hypsarrhythmia Nail dysplasia Bifid uvula Iris coloboma Dysplastic patella



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