Breast carcinoma, and Narrow chest

Diseases related with Breast carcinoma and Narrow chest

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

Top matches:

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

Other less relevant matches:

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

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

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Breast carcinoma and Narrow chest

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Wide intermamillary distance Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Breast carcinoma and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Intellectual disability Abnormal facial shape Low-set ears Short neck Microcephaly Narrow mouth Micrognathia Talipes equinovarus Growth delay Motor delay High palate Macrocephaly Muscular hypotonia Kyphosis Ptosis Hypospadias Posteriorly rotated ears Cleft upper lip Feeding difficulties Delayed speech and language development Flat face Prominent nasal bridge Seizures Hearing impairment Oral cleft Downslanted palpebral fissures Epicanthus Intrauterine growth retardation Clinodactyly Micropenis Cleft lip Renal hypoplasia Short ribs Short nose Wide nasal bridge Inguinal hernia Synophrys Strabismus Anteverted nares Respiratory distress Pectus excavatum Macrotia Hypertelorism Midface retrusion Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases

Pulmonary hypoplasia Hydronephrosis Hernia Self-injurious behavior Short distal phalanx of finger Irregular vertebral endplates Myopathy Respiratory insufficiency Gait disturbance Skeletal muscle atrophy Generalized osteoporosis Flexion contracture Low-set, posteriorly rotated ears Aggressive behavior Autism Areflexia Thoracic hypoplasia Protuberant abdomen Brachycephaly Microphthalmia Intellectual disability, severe Abnormality of the skeletal system Hypothyroidism Short thorax Cataract Genu varum Microretrognathia Coxa vara Postnatal growth retardation Hyperlordosis Self-mutilation Hydrocephalus Renal cyst Coxa valga Malar flattening Dilatation Talipes Abnormality of the pinna High forehead Polyhydramnios Patent ductus arteriosus Disproportionate short-limb short stature Syndactyly Edema Hypoplasia of the corpus callosum Joint stiffness Brachydactyly Osteoporosis Cleft palate Glaucoma Bilateral cryptorchidism Proximal placement of thumb Kyphoscoliosis Osteopenia Bilateral single transverse palmar creases Anophthalmia Decreased fetal movement Abnormality of the kidney Pes planus Camptodactyly of finger Thick lower lip vermilion Long eyelashes Highly arched eyebrow Single transverse palmar crease Recurrent pneumonia Bifid tongue Dental crowding Median cleft lip Low anterior hairline Neonatal hypotonia High, narrow palate Sparse scalp hair Polydactyly Sparse eyelashes Sparse and thin eyebrow Ventriculomegaly Thick eyebrow Prominent nose Round face Prominent forehead Long philtrum Gynecomastia Abnormality of the shoulder Tics Rectal prolapse Agenesis of permanent teeth Progressive gait ataxia Broad face Hydroureter Dystrophic fingernails Absent speech Poor coordination Hyporeflexia Bone cyst Spastic diplegia Striae distensae Upslanted palpebral fissure Hip contracture Thoracic kyphosis Short clavicles Optic nerve coloboma Ciliary body coloboma Long thorax Misalignment of teeth Complete duplication of thumb phalanx Abnormal palmar dermatoglyphics Agenesis of maxillary lateral incisor Sclerocornea Shield chest External ear malformation Tremor Down-sloping shoulders Restlessness Atrial septal defect Abnormality of the clavicle Ankyloblepharon Insulin-resistant diabetes mellitus Clubbing Radial deviation of finger Torus palatinus Finger syndactyly Posterior polar cataract Neurological speech impairment Coloboma Autistic behavior Camptodactyly Absent axillary hair Basilar impression Motor tics Clinodactyly of the 5th finger Anal atresia Abnormality of cardiovascular system morphology Posterior scalloping of vertebral bodies Abnormality of the dentition Blindness Absent facial hair Increased size of the mandible Visual impairment Calcification of the auricular cartilage Nystagmus Toe syndactyly Iris coloboma Abnormality of dental morphology Bicuspid aortic valve Congenital hypothyroidism Recurrent ear infections Ectopic calcification Overfolded helix Chorioretinal coloboma Narrow iliac wings Abnormal glucose tolerance Pyloric stenosis Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Delayed eruption of teeth Muscle stiffness Joint contracture of the hand Preauricular skin tag Aganglionic megacolon Recurrent otitis media Lumbar hyperlordosis Webbed neck Brain atrophy Microcornea Cerebral cortical atrophy Unsteady gait Mandibular prognathia Hypergonadotropic hypogonadism Hip dysplasia Neoplasm Cerebral calcification Ataxia Bradykinesia Abnormal form of the vertebral bodies Thickened skin Clonus Paraparesis Anemia Microdontia of primary teeth Knee flexion contracture Spastic paraparesis Osteolysis Bifid ribs Medial deviation of the foot Exodeviation Poliosis Bull's eye maculopathy Otitis media Peripheral neuropathy Hyperextensibility of the finger joints Nevus Genu valgum Distal amyotrophy Broad forehead Abnormal pyramidal sign Downturned corners of mouth Protruding ear Developmental regression Neurodegeneration Conductive hearing impairment Hypertonia Deeply set eye Gait ataxia Diabetes mellitus Hypogonadism Pes cavus Agenesis of corpus callosum Babinski sign Intellectual disability, mild Behavioral abnormality Plagiocephaly Rib fusion Anxiety Renal agenesis Mixed hearing impairment Ankle clonus Low posterior hairline Cerebellar vermis hypoplasia Basal ganglia calcification Abnormality of the ribs Narrow forehead Postaxial hand polydactyly Growth hormone deficiency Anonychia Vesicoureteral reflux Wide nose Joint hypermobility Congenital cataract Pectus carinatum Attention deficit hyperactivity disorder Sparse body hair Craniosynostosis Wide mouth Truncal obesity Intention tremor Broad philtrum Supernumerary nipple Conical tooth Rectovaginal fistula Abnormal hair pattern Beaking of vertebral bodies Sprengel anomaly Shawl scrotum Vertebral fusion Vertebral segmentation defect Neurodevelopmental delay Overlapping toe Tall stature Large for gestational age Coarse hair Sacral dimple Abnormal palate morphology Schizophrenia Hemivertebrae Melanocytic nevus Metatarsus adductus Gingival overgrowth Splayed fingers Severe short stature Radioulnar dislocation Tracheomalacia Hypoplastic labia minora Bronchomalacia Aplasia/Hypoplasia of the patella Breast hypoplasia Patellar aplasia Sparse pubic hair Sparse axillary hair Calvarial skull defect Severe postnatal growth retardation Slender long bone Absent sternal ossification Clitoral hypertrophy Growth abnormality Laryngomalacia Scrotal hypoplasia Triangular face Microtia Gastroesophageal reflux Dyspnea Delayed skeletal maturation Birth length less than 3rd percentile Muscle weakness Central Y-shaped metacarpal Adducted thumb Microphallus Degeneration of anterior horn cells Tongue fasciculations Thickened nuchal skin fold Multiple joint contractures Myopathic facies Spinal muscular atrophy Congenital contracture Failure to thrive in infancy Respiratory insufficiency due to muscle weakness Cognitive impairment Severe muscular hypotonia Abnormality of the fingernails Open mouth Interphalangeal joint contracture of finger Hypoplasia of penis Arthrogryposis multiplex congenita Dolichocephaly Facial palsy Abnormality of metabolism/homeostasis Failure to thrive Short middle phalanx of the 2nd finger Proximal spinal muscular atrophy Nephrotic syndrome Fragile skin Interstitial pulmonary abnormality Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Abnormal lung morphology Fine hair Cyanosis Onycholysis Abnormal blistering of the skin Nail dystrophy Erythema Respiratory tract infection Proteinuria Recurrent respiratory infections Pneumonia Renal insufficiency Fever Tubular atrophy Decreased glomerular filtration rate Short 2nd finger Retrognathia Partial duplication of thumb phalanx Clubbing of fingers Inverted nipples Prominent metopic ridge Abnormality of digit CNS hypomyelination Decreased body weight Tetralogy of Fallot Dental malocclusion Curly eyelashes Crossed fused renal ectopia Unilateral cryptorchidism Short columella Broad hallux Underdeveloped nasal alae Hirsutism Poor speech Thin upper lip vermilion Hyperactivity Junctional split Respiratory acidosis Skin dimples Hepatomegaly Broad first metatarsal Depressed nasal ridge Abnormality of the hand Short metatarsal Sandal gap Joint dislocation Horseshoe kidney Rhizomelia Broad thumb Bowing of the long bones Osteoarthritis Nail dysplasia Short femoral neck Waddling gait Short metacarpal Abdominal distention Micromelia Smooth philtrum Platyspondyly Joint laxity Arthritis Skeletal dysplasia Metaphyseal widening Congenital glaucoma Respiratory failure Advanced ossification of carpal bones Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Long upper lip Cystic hygroma Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short 1st metacarpal Generalized joint laxity Flat acetabular roof Proptosis Obesity Frontal bossing Short toe Broad palm Short finger Milia Bowing of the legs Metaphyseal irregularity Preaxial polydactyly Patent foramen ovale Short long bone Holoprosencephaly Omphalocele Hypoplastic nipples Ambiguous genitalia Limb undergrowth Dandy-Walker malformation Intestinal malrotation Ascites Short foot Short palm Splenomegaly Ventricular septal defect Natal tooth Anencephaly Immunodeficiency Lobulated tongue Myopia Depressed nasal bridge Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Accessory spleen Broad foot Horizontal ribs Median cleft lip and palate Pancreatic cysts Cystic renal dysplasia Atelectasis Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Microglossia Superiorly displaced ears


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