Carcinoma, and Joint hypermobility

Diseases related with Carcinoma and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Carcinoma and Joint hypermobility that can help you solving undiagnosed cases.


Top matches:

Medium 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


SOURCES: OMIM MENDELIAN

More info about PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC

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 TYPE

Medium 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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

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Other less relevant matches:

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


SOURCES: OMIM MENDELIAN

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 SYNDROME

Medium 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 HYPOPLASIA

Medium 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 SYNDROME

Low match DESMOID TUMOR


A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Joint hypermobility

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Frontal bossing Short stature Cryptorchidism Strabismus Micrognathia Hypertelorism Scoliosis Hearing impairment Seizures Overgrowth Atrial septal defect Cognitive impairment Macroglossia Pectus excavatum Ventriculomegaly Decreased body weight Abnormality of the kidney Neoplasm of the skin Failure to thrive Cafe-au-lait spot Long philtrum Nystagmus Abnormal facial shape High palate Delayed speech and language development Postural instability Joint laxity Intellectual disability, moderate Depressed nasal bridge Pain Hypertension Neuroblastoma Hepatomegaly Respiratory insufficiency Cardiomyopathy Myopia Intellectual disability, mild Delayed skeletal maturation Hydrocephalus Leukemia Growth delay Accelerated skeletal maturation Dilatation Short neck Downslanted palpebral fissures Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Motor delay Low-set ears Cataract Kyphoscoliosis Vitreomacular adhesion Polyhydramnios Edema Short nose Hernia Respiratory failure Proptosis Hypothyroidism Hypoglycemia Abdominal mass Hydronephrosis Wide mouth Nevus Large for gestational age Tibial bowing Hamartoma Rhabdomyosarcoma Neonatal hypoglycemia Lymphoma Skeletal muscle atrophy Severe short stature Sepsis Enlarged cerebellum Muscular hypotonia Epicanthus Abnormality of the skeletal system Anteverted nares Low-set, posteriorly rotated ears Fibroma Sparse hair Pectus carinatum Arthrogryposis multiplex congenita Malabsorption Joint hyperflexibility Gastrointestinal hemorrhage Abnormality of retinal pigmentation Abdominal pain Papilloma Myopathy Subcutaneous nodule Diarrhea Kyphosis Immunodeficiency Recurrent infections Large face Decreased antibody level in blood Hamartomatous polyposis Lymphopenia Cellular immunodeficiency Hemangioma Increased intracranial pressure Hodgkin lymphoma Renal cell carcinoma Megalencephaly Flexion contracture Intestinal polyposis Teratoma Transitional cell carcinoma of the bladder Epidermal acanthosis Hypoplasia of dental enamel Cutis laxa Abnormal dermatoglyphics Narrow palate Prominent forehead Pointed chin Lymphedema Hyperkeratosis Ptosis Squamous cell carcinoma Pes planus Conductive hearing impairment Redundant skin Narrow mouth Hypermetropia Clinodactyly Papule High, narrow palate Wide nasal bridge Feeding difficulties Apraxia Epidermoid cyst Vesicoureteral reflux Palmoplantar keratoderma Palmoplantar hyperkeratosis Macrotia Triangular face Nephroblastoma Large hands Bulbous nose Ventricular septal defect Thick lower lip vermilion Pulmonic stenosis Thick vermilion border Poor suck Wide nose Tachycardia Astigmatism Hyperextensible skin Delayed puberty Pyloric stenosis Feeding difficulties in infancy Postnatal growth retardation Irritability Laryngomalacia Apnea Hypertrophic cardiomyopathy Abnormality of the nervous system Osteopenia Failure to thrive in infancy Gastroesophageal reflux Cerebral cortical atrophy Hypogonadism Hyperhidrosis Hematuria Relative macrocephaly Sleep disturbance Hoarse voice Eczema Atrial fibrillation Hip dysplasia Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Abnormality of the skin Growth hormone deficiency Hydrops fetalis Abnormality of the hair Abnormality of dental enamel Mitral valve prolapse Webbed neck Premature birth Short chin Full cheeks Abnormality of the fingernails Nail dystrophy Tetraplegia Acanthosis nigricans Ascites Infantile muscular hypotonia Arnold-Chiari malformation Osteoporosis Renal insufficiency Posteriorly rotated ears Heart block Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis 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 Upper limb undergrowth Normocytic anemia Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Mucopolysacchariduria Hypersplenism Pes cavus Abnormality of humoral immunity Inguinal hernia Arrhythmia Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Pleural effusion Abnormality of the dentition Talipes equinovarus Dysphagia Dysarthria Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Biconvex vertebral bodies Ectodermal dysplasia Abnormal T cell morphology Spinal dysraphism Congenital hypoplastic anemia Neonatal short-limb short stature Abnormal bone ossification Abnormally ossified vertebrae Hypoplastic anemia Abnormality of the distal phalanx of finger Severe T-cell immunodeficiency Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Aortic aneurysm Curly hair Heart murmur Congenital neuroblastoma Abnormality of the abdominal wall Abnormality of the upper urinary tract Abnormality of the musculature Colon cancer Intestinal obstruction Osteolysis Limitation of joint mobility Chest pain Myalgia Arthralgia Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Lymphangiectasis Desmoid tumors 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 Deep-set nails Vestibular Schwannoma Neoplasm of the breast Spasticity Ganglioneuroblastoma Noncommunicating hydrocephalus Thoracic kyphoscoliosis Down-sloping shoulders Thoracic kyphosis Posterior subcapsular cataract Hepatocellular carcinoma Subcapsular cataract Premature graying of hair Lipodystrophy Elbow flexion contracture Single transverse palmar crease Hepatic failure Prominent nasal bridge Deeply set eye Corticospinal tract hypoplasia Intellectual disability, severe Flexion contracture of thumb Clear cell renal cell carcinoma Aqueductal stenosis Absent septum pellucidum Hemiplegia/hemiparesis Adducted thumb Holoprosencephaly Spastic paraparesis Paraparesis Paraplegia Spastic paraplegia Abnormal pyramidal sign Joint stiffness Agenesis of corpus callosum Frontal hirsutism Concentric hypertrophic cardiomyopathy Hyperglycemia Soft skin Verrucae Large forehead 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 Arnold-Chiari type I malformation Lack of skin elasticity Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Short thorax Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Central apnea Abnormality of the testis Hypopnea Bronchomalacia Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail 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 Mesomelia Long foot Cone-shaped epiphysis Prune belly Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Nephroblastomatosis Thymus hyperplasia Otitis media Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Renal cortical cysts Hypodontia Embryonal neoplasm Hepatoblastoma Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Renal agenesis Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Nonimmune hydrops fetalis Congenital mesoblastic nephroma Ataxia Ketosis Nausea and vomiting Prominent nose Scrotal hypoplasia Gynecomastia Exotropia Chronic diarrhea Telangiectasia Hyperreflexia Broad thumb Intention tremor Optic atrophy Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Proximal muscle weakness Muscle weakness Autism Behavioral abnormality Patent ductus arteriosus Headache Mandibular prognathia Jaundice Neonatal hypotonia Tremor Aggressive behavior Brachydactyly Respiratory tract infection Dolichocephaly Genu valgum Diastasis recti Sloping forehead Drooling Poor coordination Umbilical hernia Reduced number of teeth Polydactyly Hyperactivity Myoclonus Midface retrusion Precocious puberty Agenesis of permanent teeth Respiratory distress Partial agenesis of the corpus callosum Intrauterine growth retardation Prolonged neonatal jaundice Acute lymphoblastic leukemia Cleft palate Abnormal vertebral morphology Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla High anterior hairline Enlarged cisterna magna Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Narrow face Attention deficit hyperactivity disorder Nevus flammeus Polycystic kidney dysplasia Enlarged kidney Foot polydactyly Protuberant abdomen Aniridia Prominent metopic ridge Congenital hypothyroidism Broad palm Small nail Abnormality of the ear Prominent occiput Clumsiness Hypercalciuria Prominent supraorbital ridges Growth abnormality Pulmonary hypoplasia Abnormality of the outer ear Nephrocalcinosis Nephrolithiasis Large fontanelles Recurrent urinary tract infections Omphalocele Cardiomegaly Dandy-Walker malformation Heterotopia Abdominal distention Tall stature Renal cyst Postaxial polydactyly Cranial nerve paralysis Hypopigmented skin patches Metaphyseal widening Alopecia Atrophic scars Hypotrichosis Amyloidosis Rhinitis Abnormal cardiac septum morphology Parakeratosis Hyperlordosis Follicular hyperkeratosis EEG abnormality Skeletal dysplasia Brachycephaly Corneal neovascularization Pneumonia Constipation Micromelia Thick nail Thrombocytopenia Splenomegaly Chronic rhinitis Hyperkeratosis pilaris Visual impairment Anemia Finger joint hypermobility Epidermal hyperkeratosis Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Narrow chest Short palm Dysplastic gangliocytoma of the cerebellum Rhizomelia Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Advanced eruption of teeth Abnormality of epiphysis morphology Small hand Bronchiectasis Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Hypopigmentation of the skin Neutropenia Conjunctival hamartoma Trichilemmoma Melanoma Acute myeloid leukemia Blepharophimosis Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Smooth philtrum Thin vermilion border Thyroiditis Ovarian neoplasm Hyperthyroidism Multiple cafe-au-lait spots Hydrocele testis Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Breast carcinoma Meningioma Arteriovenous malformation Keratoacanthoma Ovarian carcinoma Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Furrowed tongue Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Ovarian cyst Astrocytoma Abnormality of the uterus Fulminant hepatic failure



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Iris coloboma, related diseases and genetic alterations Ventricular septal defect and Oligohydramnios, related diseases and genetic alterations Visual impairment and Agenesis of corpus callosum, related diseases and genetic alterations Skeletal muscle atrophy and Situs inversus totalis, related diseases and genetic alterations Peripheral neuropathy and Delayed speech and language development, related diseases and genetic alterations Ataxia and Thrombocytopenia, related diseases and genetic alterations

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