Carcinoma, and Congenital diaphragmatic hernia

Diseases related with Carcinoma and Congenital diaphragmatic hernia

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


Top matches:

Medium match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Medium match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME


Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

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Other less relevant matches:

Medium match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

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 FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2


Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

Top 5 symptoms//phenotypes associated to Carcinoma and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hypertension Intellectual disability, mild Seizures Hepatomegaly Epidermal acanthosis Abdominal distention Postural instability Hyperkeratosis Respiratory distress Edema Scoliosis Abnormal facial shape Macrocephaly Failure to thrive Hydrocephalus Abnormality of cardiovascular system morphology Hypertelorism Overgrowth Weight loss Growth delay Macroglossia Atrial septal defect Squamous cell carcinoma Abnormal heart morphology Pain Anemia Short stature Generalized hypotonia Proptosis Renal insufficiency Hypothyroidism

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Abnormality of the dentition Frontal bossing Growth hormone deficiency Muscular hypotonia Delayed skeletal maturation Inguinal hernia Nystagmus Micrognathia Feeding difficulties in infancy Strabismus Congenital hypothyroidism Ptosis High palate Abnormal vertebral morphology Fatigue Facial asymmetry Cleft palate Nevus Recurrent urinary tract infections Joint hypermobility Wide mouth Abnormality of the kidney Intellectual disability, moderate Hypoglycemia Coarse facial features Polyhydramnios Respiratory failure Short nose Cardiomyopathy Respiratory insufficiency Intrauterine growth retardation Hearing impairment Nephroblastoma Rhabdomyosarcoma Vitreomacular adhesion Hemihypertrophy Hepatoblastoma Embryonal neoplasm Congestive heart failure Headache Vertigo Large for gestational age Telangiectasia Neonatal hypoglycemia Hamartoma Neuroblastoma Hematemesis Melena Ventriculomegaly Epicanthus Gastrointestinal hemorrhage Postnatal growth retardation Cafe-au-lait spot Gastroesophageal reflux Dysphagia Ascites Abnormality of the testis Abdominal pain Lethargy Hyperhidrosis Constipation Nausea and vomiting Arrhythmia Poor suck Clubbing of toes Irritability Hypertrophic cardiomyopathy Diarrhea Follicular hyperkeratosis Astigmatism Hypogonadism Stomach cancer Severe short stature Tachycardia Cranial nerve paralysis Pulmonic stenosis Joint hyperflexibility Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Delayed puberty Abnormal carotid artery morphology Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Aplastic anemia Thick vermilion border Apnea Low-set, posteriorly rotated ears Joint laxity Abnormality of the nervous system Abnormality of the uterus Osteopenia Kyphoscoliosis Wide nose Irregular hyperpigmentation Hematuria Abnormality of blood and blood-forming tissues Hydroureter Absent thumb Eczema Hip dysplasia Abnormality of the skin Myeloid leukemia Multiple cafe-au-lait spots Webbed neck Premature birth Acute myeloid leukemia Full cheeks Abnormality of the ulna Sepsis Tetraplegia Absent radius Sleep disturbance Aplasia/Hypoplasia of the radius External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology High, narrow palate Cerebral cortical atrophy Acute monocytic leukemia Osteoporosis Partial duplication of thumb phalanx Meckel diverticulum Low-grade fever Delayed speech and language development Feeding difficulties Cognitive impairment Low-set ears Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Duodenal stenosis Apraxia Neoplasm of head and neck Decreased fertility in males Deficient excision of UV-induced pyrimidine dimers in DNA Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Anemic pallor Prolonged G2 phase of cell cycle Duplicated collecting system Primary hypothyroidism Posteriorly rotated ears Long philtrum Pes cavus Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Pectus excavatum Absent speech Cerebral atrophy Abnormal renal morphology Abnormal localization of kidney Myopathy Abnormality of nervous system morphology Short neck Anteverted nares Abnormality of chromosome stability Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Myopia Dysarthria Reticulocytopenia Motor delay Abnormal aortic morphology Depressed nasal bridge Mitral valve prolapse Relative macrocephaly Thick lower lip vermilion Papilloma Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Deep plantar creases Thin nail Large face Bronchomalacia Transitional cell carcinoma of the bladder Fetal distress 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 Concentric hypertrophic cardiomyopathy Ganglioneuroblastoma Labial hypoplasia Congenital neuroblastoma Perifolliculitis Chronic furunculosis Acne inversa Recurrent cutaneous abscess formation Reticular hyperpigmentation Atrophic scars Acne Papule Scarring Obesity Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Lymphangiectasis Frontal hirsutism Alveolar rhabdomyosarcoma Tendon rupture Myofiber disarray Enlarged cerebellum 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 Deep palmar crease Redundant neck skin Atrial fibrillation Acanthosis nigricans Pleural effusion Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Laryngomalacia Hypoplasia of the ulna Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Hyperglycemia Short chin Abnormality of dental enamel Narrow palate Pointed chin Hoarse voice Abnormality of the hair Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Hypoplasia of dental enamel Heart murmur Bilateral cryptorchidism Lack of skin elasticity Severe postnatal growth retardation Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Hypoplastic toenails Soft skin Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Ectopic kidney Hypospadias Glucose intolerance Thyroid agenesis Communicating hydrocephalus Myelomeningocele Increased circulating cortisol level Impaired pain sensation Multiple lipomas Neurofibromas Skeletal muscle hypertrophy Bicuspid aortic valve Thyroid hemiagenesis Thyroid dysgenesis Large posterior fontanelle Ectopic thyroid Adrenocortical adenoma Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Hypothermia Spondyloepiphyseal dysplasia Myotonia Stridor Goiter Hyperbilirubinemia Bradycardia Dry skin Esophageal leukoplakia Pheochromocytoma Asymmetric growth Abnormality of esophagus physiology Portal hypertension Duodenal adenocarcinoma Multiple gastric polyps Intussusception Hamartomatous polyposis Rectal prolapse Intestinal polyposis Clubbing of fingers Hematochezia Hemoptysis Polycythemia Colon cancer Clubbing Hypoalbuminemia Asymmetry of the thorax Hypokalemia Diplopia Epistaxis Cyanosis Chest pain Cough Stroke Jaundice Dyspnea Hemiareflexia Hemifacial hypertrophy Leiomyosarcoma Abnormal large intestine morphology Esophageal carcinoma Hepatic vascular malformations Coma Insomnia Agitation Apathy Hyponatremia Hyperlipidemia Paraparesis Hallucinations Anorexia Cutaneous photosensitivity Psychosis Urinary incontinence Nephropathy Dysuria Nausea Stage 5 chronic kidney disease Paresthesia Paralysis Anxiety Myalgia Hepatosplenomegaly Arthralgia Depressivity Behavioral abnormality Vomiting Muscle weakness Hepatocellular carcinoma Ileus Esophageal neoplasm Palmoplantar hyperkeratosis Diffuse palmoplantar hyperkeratosis Abnormality of the mediastinum Plantar hyperkeratosis Esophageal stricture Hypergranulosis Oral leukoplakia Esophagitis Hiatus hernia Abnormality of the mouth Parakeratosis Poor appetite Oral-pharyngeal dysphagia Thickened skin Urinary retention Ectodermal dysplasia Palmoplantar keratoderma Acute episodes of neuropathic symptoms Red urine Elevated urinary delta-aminolevulinic acid Paralytic ileus Respiratory paralysis Hypertensive crisis Psychotic episodes Delirium Abnormal urinary color Diaphragmatic paralysis Adenocarcinoma of the colon Midface retrusion Tracheoesophageal fistula Abnormality of the eye Abnormality of skin pigmentation Anal atresia Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Small for gestational age Leukemia Abnormal cardiac septum morphology Abnormality of the liver Pes planus Neutropenia Diabetes mellitus Upslanted palpebral fissure Clinodactyly of the 5th finger Patent ductus arteriosus Thrombocytopenia Microphthalmia Fever Hyperreflexia Visual impairment Cataract Ataxia Microcephaly Bruising susceptibility Hypopigmentation of the skin Pancreatoblastoma Bone marrow hypocellularity Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Lymphoma Spina bifida Insulin resistance Short thumb Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Congenital mesoblastic nephroma Fibrous hamartoma Myoclonus Nephrolithiasis Broad palm Tibial bowing Abnormality of the ear Prominent occiput Large hands Hypercalciuria Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Accelerated skeletal maturation Nephrocalcinosis Large fontanelles Aniridia Omphalocele Cardiomegaly Dandy-Walker malformation Vesicoureteral reflux Renal cyst Postaxial polydactyly Pulmonary hypoplasia Attention deficit hyperactivity disorder Hydronephrosis Conductive hearing impairment Polydactyly Hyperactivity Prominent metopic ridge Protuberant abdomen Pancreatic hyperplasia Abdominal wall defect Overgrowth of external genitalia Adrenocortical cytomegaly Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Prune belly Renal cortical cysts Teratoma Foot polydactyly Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Nonimmune hydrops fetalis Diastasis recti Ketosis Nevus flammeus Enlarged kidney Macular hyperpigmentation



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