Carcinoma, and Bifid uvula

Diseases related with Carcinoma and Bifid uvula

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


Top matches:

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 HEREDITARY DIFFUSE GASTRIC CANCER


Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

HEREDITARY DIFFUSE GASTRIC CANCER Is also known as hereditary diffuse cancer of stomach|hereditary diffuse gastric adenocarcinoma|familial diffuse cancer of stomach|familial diffuse gastric cancer|gastric cancer, familial diffuse|fdgc|hdgc|gastric cancer, hereditary diffuse

Related symptoms:

  • Neoplasm
  • Cleft palate
  • Carcinoma
  • Cleft lip
  • Cleft upper lip


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY DIFFUSE GASTRIC CANCER

Medium match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

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Other less relevant matches:

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low 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

Low 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

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Top 5 symptoms//phenotypes associated to Carcinoma and Bifid uvula

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Scoliosis Proptosis Pain Hypertelorism Coarse facial features Cleft palate Cryptorchidism Strabismus Microcephaly Abnormality of the skeletal system Conductive hearing impairment Abnormality of the kidney Leukemia Seizures Abnormal heart morphology Chromosome breakage Microphthalmia Atrial septal defect Hydrocephalus Respiratory distress Visual loss Frontal bossing Generalized hypotonia Cataract Epicanthus Micrognathia Anemia Macrocephaly Intrauterine growth retardation Nystagmus

Rare Symptoms - Less than 30% cases


Syndactyly Anteverted nares Thick lower lip vermilion Clinodactyly Ganglioneuroma Postaxial polydactyly Nevus Acne Subcutaneous nodule Polydactyly Respiratory tract infection Cerebral calcification Papule Facial palsy Aggressive behavior Hemiparesis Stomach cancer Breast carcinoma Oral cleft Cleft upper lip Cleft lip Duodenal stenosis Acute monocytic leukemia Disproportionate tall stature Acute myeloid leukemia Kyphoscoliosis Hamartomatous polyposis Hyperlordosis Bone marrow hypocellularity Histiocytoma Downslanted palpebral fissures Joint hypermobility Vesicoureteral reflux Overgrowth Astrocytoma Neurofibromas Accelerated skeletal maturation Pectus excavatum Postural instability Glaucoma Nephroblastoma Carious teeth Ovarian carcinoma Large hands Agenesis of permanent teeth Narrow palate Neuroblastoma Joint laxity Sparse hair High, narrow palate Delayed speech and language development Mandibular prognathia Teratoma Myelodysplasia Neoplasm of the endocrine system Spina bifida Sloping forehead Hyperreflexia Cafe-au-lait spot Hypopigmentation of the skin Hypothyroidism Ventriculomegaly Renal agenesis Headache Visual impairment Recurrent urinary tract infections Patent ductus arteriosus Aganglionic megacolon Pes planus Umbilical hernia Upslanted palpebral fissure Hepatomegaly Lymphoma Hip dislocation Ptosis Abnormal vertebral morphology Short stature Growth delay Abnormality of the foot Failure to thrive Ataxia Dolichocephaly Abnormality of skin pigmentation Weight loss Respiratory insufficiency Enlarged cisterna magna Long foot Multiple impacted teeth Hyperactivity Severe hydrocephalus Short distal phalanx of the thumb Palmar pits Supernumerary ribs High anterior hairline Cavum septum pellucidum Short nose Poor coordination Acute lymphoblastic leukemia Ectopic calcification Respiratory failure Prolonged neonatal jaundice Midface retrusion Partial agenesis of the corpus callosum Advanced eruption of teeth Oxycephaly Hypertension Sacrococcygeal teratoma Abnormality of the cerebral ventricles Abnormality of the sense of smell Small cell lung carcinoma Myoclonus Cervical ribs Intellectual disability, mild Gray matter heterotopias Cardiomyopathy Edema Expressive language delay Hyperplasia of the maxilla Fibroma Vertebral wedging Hernia Parietal bossing Overbite Abnormal glucose tolerance Periventricular leukomalacia Reduced number of teeth Orbital cyst Inguinal freckling Macrotia Cardiac fibroma Prominent forehead Behavioral abnormality Ventricular septal defect Irregular ossification of hand bones Optic atrophy Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Elevated urinary epinephrine Neonatal hypotonia Subcutaneous neurofibromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Colonic diverticula Medullary thyroid carcinoma Lisch nodules Parathyroid hyperplasia Jaundice Hypermetropia Precocious puberty Odontogenic keratocysts of the jaw Redundant skin Calcification of falx cerebri Curved fingers Hypoglycemia Bifid ribs Cutis laxa Abnormal dermatoglyphics Cardiac rhabdomyoma Pointed chin Narrow face Lymphedema Genu valgum Ovarian fibroma Tall stature Hypoplasia of dental enamel Heterotopia Clumsiness Small nail Apraxia Otitis media Plantar pits Hypodontia Bridged sella turcica Polyhydramnios Attention deficit hyperactivity disorder Hydronephrosis Sprengel anomaly EEG abnormality Retrognathia Abdominal pain Brachycephaly Abnormality of the dentition Wide nasal bridge Brachydactyly Dysarthria Motor delay Spasticity Congenital mesoblastic nephroma Pancreatoblastoma Telecanthus Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Adrenocortical carcinoma Flank pain Proteinuria Coloboma Renal cortical cysts Abnormality of the sternum Vertebral fusion Long fingers Basal cell carcinoma Milia Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypotrichosis Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Bradycardia Hyperpigmentation of the skin Exotropia Abnormality of the ribs Hypotension Palmoplantar keratoderma Thoracic scoliosis Iris coloboma Arachnodactyly Prune belly Embryonal neoplasm Medulloblastoma Nephrocalcinosis Abnormality of the neck Abnormality of the ear Prominent occiput Large for gestational age Broad face Hypercalciuria Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Ulcerative colitis Nephrolithiasis Broad palm Large fontanelles Omphalocele Cardiomegaly Dandy-Walker malformation Macroglossia Abdominal distention Renal cyst Brain neoplasm Pulmonary hypoplasia Colitis Wide mouth Intellectual disability, moderate Tibial bowing Hamartoma Hepatoblastoma Pheochromocytoma Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Nonimmune hydrops fetalis Ketosis Congenital hypothyroidism Neonatal hypoglycemia Narrow nose Fragile nails Down-sloping shoulders Skin tags Nevus flammeus Enlarged kidney Foot polydactyly Short 4th metacarpal Protuberant abdomen Aniridia Prominent metopic ridge Diastasis recti Osteosarcoma Thyroid carcinoma Abnormality of the testis Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Duplicated collecting system Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Primary hypothyroidism Meckel diverticulum Multiple cafe-au-lait spots Deficient excision of UV-induced pyrimidine dimers in DNA Absent speech Dystonia Dysphagia Acrania Helicobacter pylori infection Chronic atrophic gastritis Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Anemic pallor Low-grade fever Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Abnormality of blood and blood-forming tissues Myeloid leukemia Recurrent respiratory infections Irritability Bruising susceptibility Vertigo Astigmatism Anal atresia Facial asymmetry Toe syndactyly Finger syndactyly Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Postnatal growth retardation Abnormality of the eye Tetralogy of Fallot Hypertrophic cardiomyopathy Diabetes mellitus Hypogonadism Severe short stature Clinodactyly of the 5th finger Hypospadias Thrombocytopenia Abnormality of cardiovascular system morphology Renal insufficiency Congestive heart failure Fatigue Fever Neutropenia Oligohydramnios Absent thumb Hypopigmented skin patches Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Pancytopenia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Insulin resistance Short thumb Telangiectasia Abnormality of the genital system Choanal atresia Short palpebral fissure Alopecia Hyperkeratosis Achalasia Anemia of inadequate production Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Uveitis Burkitt lymphoma Cellulitis Sarcoma Increased intracranial pressure Anorexia Skin rash Malar flattening Vomiting Blindness Macrodontia Thick upper lip vermilion Ovarian neoplasm Proximal placement of thumb Fibrosarcoma Vitritis Long eyelashes Kyphosis Flushing Freckling Failure to thrive in infancy Goiter Abnormality of the skin Polyneuropathy Thick vermilion border Thick eyebrow Photophobia Pes cavus Constipation Diarrhea Liposarcoma Myopathy Muscular hypotonia Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Low anterior hairline Dental malocclusion Abnormality of the nervous system Verrucae Flexion contracture Low-set ears Muscle weakness Bilateral intracranial calcifications Tongue nodules Hoarse cry Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Microglossia Depressed nasal bridge Delusions Pustule Alopecia of scalp Fragile skin Oral-pharyngeal dysphagia Oligodontia Hoarse voice Hallucinations Thickened skin Abnormal blistering of the skin Memory impairment Scarring Feeding difficulties Peripheral neuropathy Prominent nasal bridge Cubitus valgus Blepharophimosis Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Renal cell carcinoma Limited elbow extension Opisthotonus 2-3 toe syndactyly Radial deviation of finger Scaling skin Long philtrum Poor suck Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Lumbar hyperlordosis Round face Full cheeks Protruding ear Feeding difficulties in infancy Camptodactyly Apnea Hyperhidrosis Hamartomatous stomach polyps



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