Carcinoma, and Joint hyperflexibility
Diseases related with Carcinoma and Joint hyperflexibility
In the following list you will find some of the most common rare diseases related to Carcinoma and Joint hyperflexibility that can help you solving undiagnosed cases.
Top matches:
High match CARTILAGE-HAIR HYPOPLASIA
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type
Related symptoms:
- Intellectual disability
- Short stature
- Scoliosis
- Growth delay
- Neoplasm
SOURCES: OMIM ORPHANET MENDELIAN
More info about CARTILAGE-HAIR HYPOPLASIAHigh match COSTELLO SYNDROME
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about COSTELLO SYNDROMEMedium match PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC Is also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|cided, formerly
Related symptoms:
- Neoplasm
- Short neck
- Long philtrum
- Hyperkeratosis
- Carcinoma
More info about PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC
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Other less relevant matches:
Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE
BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Micrognathia
- Cryptorchidism
SOURCES: ORPHANET OMIM MENDELIAN
More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPEMedium match SOTOS SYNDROME 1; SOTOS1
SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about SOTOS SYNDROME 1; SOTOS1
Medium match BECKWITH-WIEDEMANN SYNDROME; BWS
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.
BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about BECKWITH-WIEDEMANN SYNDROME; BWS
Medium match COWDEN SYNDROME
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about COWDEN SYNDROMELow match PSEUDOACHONDROPLASIA
Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
PSEUDOACHONDROPLASIA Is also known as pseudoachondroplastic dysplasia|pseudoachondroplastic spondyloepiphyseal dysplasia
Related symptoms:
- Scoliosis
- Gait disturbance
- Kyphosis
- Delayed skeletal maturation
- Arthralgia
More info about PSEUDOACHONDROPLASIA
Low match 17Q11.2 MICRODUPLICATION SYNDROME
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about 17Q11.2 MICRODUPLICATION SYNDROMELow match KNOBLOCH SYNDROME
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about KNOBLOCH SYNDROMETop 5 symptoms//phenotypes associated to Carcinoma and Joint hyperflexibility
| Symptoms // Phenotype | % cases |
|---|---|
| Joint hypermobility | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Neoplasm | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Carcinoma and Joint hyperflexibility. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Scoliosis
Uncommon Symptoms - Between 30% and 50% cases
Coarse facial features Macrocephaly Overgrowth Abnormal facial shape Hypertelorism Hearing impairment Seizures Strabismus Intellectual disability, mild Micrognathia Leukemia Cryptorchidism Delayed speech and language development Atrial septal defect Myopia Abnormal heart morphology Cognitive impairment Short stature Depressed nasal bridge Cafe-au-lait spot Hypoplasia of dental enamel Postural instability Accelerated skeletal maturation Hamartomatous polyposis Neuroblastoma Nystagmus Abnormality of the kidney Long philtrum Pectus excavatum Ptosis Low-set ears High palate Macroglossia Motor delay Intellectual disability, moderate Downslanted palpebral fissures Frontal bossing Large hands Hydrocephalus Ventriculomegaly Vesicoureteral reflux Cardiomyopathy Failure to thrive Respiratory insufficiency Muscular hypotonia Hypertension Delayed skeletal maturation Abnormality of the skeletal system Short neck Hepatomegaly Joint laxity Epicanthus
Rare Symptoms - Less than 30% cases
Anteverted nares Proptosis Polyhydramnios Bone cyst Intestinal polyposis Epidermal acanthosis Wide mouth Apraxia High, narrow palate Lymphedema Hyperkeratosis Wide nasal bridge Decreased body weight Hypermetropia Hypoglycemia Respiratory failure Dilatation Low-set, posteriorly rotated ears Macrotia Prominent forehead Severe short stature Feeding difficulties Alopecia Ventricular septal defect Recurrent infections Immunodeficiency Pes cavus Edema Myopathy Short nose Diarrhea Cerebral atrophy Abnormality of cardiovascular system morphology Hernia Pointed chin Abnormality of the hair Abnormality of dental enamel Narrow palate Acute lymphoblastic leukemia Pain Papule Palmoplantar keratoderma Palmoplantar hyperkeratosis Teratoma Overbite Long foot Narrow mouth Thin vermilion border Vitreomacular adhesion Bulbous nose Nephroblastoma Patent ductus arteriosus Narrow face Tall stature Conductive hearing impairment Growth delay Genu valgum Midface retrusion Enlarged cerebellum Sparse hair Cataract Cutis laxa Abnormal dermatoglyphics Hemangioma Pyloric stenosis Redundant skin Polymicrogyria Large for gestational age Kyphosis Ataxia Hypothyroidism Neonatal hypoglycemia Megalencephaly Large forehead Rhabdomyosarcoma Papilloma Hamartoma Visual impairment Transitional cell carcinoma of the bladder Attention deficit hyperactivity disorder Hyperlordosis Nevus Genu varum Hypoplasia of the odontoid process Abnormality of the metaphysis Cellular immunodeficiency Bowing of the long bones Abnormality of epiphysis morphology Lymphopenia Sparse eyelashes Hodgkin lymphoma Decreased antibody level in blood Abnormality of the hip bone Tibial bowing Pectus carinatum Neoplasm of the skin Squamous cell carcinoma Disproportionate short-limb short stature Large face Sparse and thin eyebrow Arthrogryposis multiplex congenita Short palm Lymphoma Micromelia Partial agenesis of the corpus callosum Nonimmune hydrops fetalis Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Aplasia cutis congenita of scalp Diastasis recti Heterotopia Ketosis Abnormal vertebral morphology Nevus flammeus Enlarged kidney Foot polydactyly Protuberant abdomen Aniridia Prominent metopic ridge Thin skin Congenital hypothyroidism Encephalocele Broad palm Hepatoblastoma Embryonal neoplasm Lens luxation Overgrowth of external genitalia Skeletal muscle atrophy Sloping forehead Brachydactyly Retinal detachment Muscle weakness Progressive visual loss Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma High myopia Pancreatic hyperplasia Adrenocortical cytomegaly Prominent occiput Nephroblastomatosis Thymus hyperplasia Abdominal mass Small nail Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Prune belly Clumsiness Renal cortical cysts Abnormality of the ear Prominent supraorbital ridges Hypercalciuria Abnormal glucose tolerance Abnormality of the cerebral ventricles Calvarial skull defect Small cell lung carcinoma Dextrocardia Precocious puberty Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Cortical dysplasia Bifid ureter Chorioretinal atrophy Periventricular leukomalacia Ectopia lentis Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Absent septum pellucidum Enlarged cisterna magna Occipital encephalocele High anterior hairline Aplasia cutis congenita Poor coordination Meningocele Agenesis of permanent teeth Vitreoretinopathy Cleft palate Intrauterine growth retardation Prolonged neonatal jaundice Abdominal distention Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Nephrocalcinosis Anomalous pulmonary venous return Nephrolithiasis Large fontanelles Recurrent urinary tract infections Tremor Omphalocele Cardiomegaly Dandy-Walker malformation Renal cyst Respiratory distress Postaxial polydactyly Pulmonary hypoplasia Pachygyria Hydronephrosis Umbilical hernia Horizontal nystagmus Polydactyly Macular degeneration Hyperactivity Reduced number of teeth Myoclonus Corneal dystrophy Neoplasm of the thyroid gland Proximal muscle weakness Retinal degeneration Specific learning disability Osteoarthritis Subcutaneous lipoma Occipital meningocele Irregular carpal bones Microcephaly Colonic diverticula Spasticity Adenoma sebaceum Malar flattening Thin upper lip vermilion Decreased proportion of CD4-positive T cells Facial asymmetry Neoplasm of the central nervous system Generalized hyperkeratosis Short foot Fibroma Enlarged polycystic ovaries Cavernous hemangioma Long penis Neurofibromas Alopecia of scalp Broad neck Macroorchidism Bifid nose Thick nasal alae Ovarian cyst Lisch nodules Renal agenesis Astrocytoma Short metacarpal Platyspondyly Axillary freckling Dysplastic gangliocytoma of the cerebellum Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Band keratopathy Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Trichilemmoma Lymphangioma Arthralgia Phthisis bulbi Conjunctival hamartoma Abnormal vitreous humor morphology Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Cerebellar malformation Lobular carcinoma in situ Ovarian carcinoma Exudative retinal detachment Gait disturbance Peripapillary atrophy Angioid streaks of the fundus Abnormality of the penis Abnormality of the uterus Furrowed tongue Headache Cranial nerve paralysis Incoordination Inguinal freckling Goiter Breast carcinoma Blindness Cerebellar atrophy Visual loss Melanoma Hypopigmented skin patches Increased intracranial pressure Glaucoma Retrognathia Drooling Gynecomastia Intracranial hemorrhage Exotropia Chronic diarrhea Telangiectasia Mental deterioration Nyctalopia Subcutaneous nodule Broad thumb Intention tremor Abnormal cerebellum morphology Hypoplasia of the maxilla Congenital cataract Nausea and vomiting Acrokeratosis Autism Dysdiadochokinesis Spinal neurofibromas Arteriovenous malformation Thyroiditis Hydrocele testis Meningioma Subcutaneous neurofibromas Optic nerve glioma Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Neurofibrosarcoma Renal cell carcinoma Ovarian neoplasm Focal T2 hyperintense basal ganglia lesion Deviated nasal septum Hyperthyroidism Acute myeloid leukemia Macular hypoplasia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Plexiform neurofibroma Melanocytic nevus Hand polydactyly Total anomalous pulmonary venous return Postprandial hyperglycemia Otitis media Sparse facial hair Absent speech Renal insufficiency Abnormality of the dentition Talipes equinovarus Dysphagia Dysarthria Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Impaired lymphocyte transformation with phytohemagglutinin Inguinal hernia Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Hypersplenism Normocytic anemia Arrhythmia Posteriorly rotated ears Abnormal diaphysis morphology Tachycardia Eczema Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Full cheeks Sepsis Tetraplegia Ascites Sleep disturbance Hematuria Thick vermilion border Wide nose Astigmatism Osteoporosis Delayed puberty Pulmonic stenosis Postnatal growth retardation Irritability Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy Abnormality of the nervous system Osteopenia Kyphoscoliosis Gastroesophageal reflux Cerebral cortical atrophy Hypogonadism Hyperhidrosis Mucopolysacchariduria Diaphyseal thickening Thick lower lip vermilion Gastrointestinal hemorrhage Hypocalcemia Short ribs Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Bronchiectasis Aganglionic megacolon Abnormal form of the vertebral bodies Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Hypopigmentation of the skin Reduced tendon reflexes Neutropenia Small hand Narrow chest Malabsorption Hypotrichosis Abnormal cardiac septum morphology EEG abnormality Skeletal dysplasia Brachycephaly Pneumonia Constipation Thrombocytopenia Splenomegaly Anemia Abnormal palate morphology Sacral dimple Bronchiolitis Thrombocytosis Abnormality of chromosome stability Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Exocrine pancreatic insufficiency Abnormality of pelvic girdle bone morphology Distal arthrogryposis Esophageal atresia Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Mitral valve prolapse Atrial fibrillation Hypodontia Deep-set nails Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Myofiber disarray Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Vestibular Schwannoma Systolic heart murmur Frontal hirsutism Ganglioneuroblastoma Concentric hypertrophic cardiomyopathy Hypopnea Shyness Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Thickened Achilles tendon Increased corneal curvature Thin nail Blepharophimosis Dolichocephaly Respiratory tract infection Aggressive behavior Neonatal hypotonia Jaundice Pes planus Mandibular prognathia Behavioral abnormality Optic atrophy Hyperreflexia Scrotal hypoplasia Prominent nose Triangular face Smooth philtrum Clinodactyly Nail dystrophy Keratoacanthoma Epidermal hyperkeratosis Finger joint hypermobility Hyperkeratosis pilaris Epidermoid cyst Chronic rhinitis Thick nail Corneal neovascularization Follicular hyperkeratosis Parakeratosis Rhinitis Amyloidosis Atrophic scars Ectodermal dysplasia Deep plantar creases Bronchomalacia Long eyelashes Pleural effusion Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Aortic aneurysm Syringomyelia Failure to thrive in infancy Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Infantile muscular hypotonia Acanthosis nigricans Abnormality of the fingernails Short chin Hoarse voice Hydrops fetalis Wide anterior fontanel Hyperpigmentation of the skin Central hypotonia Arnold-Chiari type I malformation Fetal distress Redundant neck skin Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Abnormality of the testis Soft skin Lack of skin elasticity Central apnea Verrucae Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Cephalocele
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