Carcinoma, and Pes planus

Diseases related with Carcinoma and Pes planus

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


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Low match NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3


Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3

Top 5 symptoms//phenotypes associated to Carcinoma and Pes planus

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Pes planus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormal heart morphology Frontal bossing Strabismus Abnormal facial shape Laryngomalacia Ventriculomegaly Generalized hypotonia Seizures Cryptorchidism High palate Atrial septal defect Ventricular septal defect Deeply set eye Micrognathia Cataract Microcephaly Failure to thrive Epicanthus Abnormality of the skeletal system Hypospadias Feeding difficulties in infancy Ptosis Nephroblastoma Hyperactivity Narrow palate Patent ductus arteriosus Clinodactyly of the 5th finger Hydrocephalus Growth delay Macrotia Abnormality of cardiovascular system morphology Conductive hearing impairment Joint laxity Abnormality of the kidney Leukemia Joint hypermobility Downslanted palpebral fissures Upslanted palpebral fissure Otitis media Behavioral abnormality Macrocephaly Hypertelorism Pectus excavatum Hypertension Hyperreflexia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Hypogonadism Meningioma Sensorineural hearing impairment Arrhythmia Abnormality of the urinary system Congestive heart failure Hyperinsulinemia Respiratory distress Impulsivity Low-set ears Reduced bone mineral density Autism Intrauterine growth retardation Abnormality of the dentition Diabetes mellitus Bicuspid aortic valve Cleft palate Intellectual disability, moderate Thin upper lip vermilion Abnormality of the testis Abnormal aortic morphology Blepharophimosis Expressive language delay Scarring Prominent fingertip pads Hypothyroidism Proptosis Toe syndactyly Mitral valve prolapse Short palm Round face Abnormality of the genital system Neutropenia Aganglionic megacolon Cafe-au-lait spot Astigmatism Thick vermilion border Abnormality of the foot Spina bifida Coloboma Spina bifida occulta Protruding ear Hip dislocation Inguinal hernia Finger syndactyly Small for gestational age Abnormal cardiac septum morphology Hernia Postnatal growth retardation Muscular hypotonia Cognitive impairment Midface retrusion Umbilical hernia Thin vermilion border Pulmonic stenosis Small hand Narrow palpebral fissure Heterotopia Overweight Sloping forehead Overgrowth Renal agenesis Vesicoureteral reflux High, narrow palate Hypermetropia Dolichocephaly Respiratory tract infection Aggressive behavior Coarse facial features Tall stature Prominent nasal bridge Prominent forehead Bulbous nose Single transverse palmar crease Pyloric stenosis Nystagmus Decreased body weight Renal neoplasm Premature graying of hair Convex nasal ridge Hip dysplasia Hypoplasia of dental enamel Aortic valve stenosis Abnormal vertebral morphology Kyphosis Highly arched eyebrow Long foot Pain Flexion contracture Skeletal muscle atrophy Poor coordination Neuroblastoma Underdeveloped nasal alae Large hands Eczema Wide intermamillary distance Delayed skeletal maturation Stereotypy Narrow face Low hanging columella Absent speech Anxiety Broad forehead Congenital cataract Abnormality of circulating leptin level Pallor Limitation of joint mobility Delayed puberty Aortic valve calcification Fasting hyperinsulinemia Sclerosis of hand bone Hepatic steatosis Neoplasm of the oral cavity Hypoplasia of the corpus callosum Cleft lip Abnormal hair whorl Intervertebral disc degeneration Retinal degeneration Long philtrum Premature arteriosclerosis Abnormality of the Achilles tendon Neoplasm of the small intestine High forehead Patchy hypo- and hyperpigmentation Motor delay Vomiting Progressive clavicular acroosteolysis Subcutaneous calcification Neoplasm of the thyroid gland Depressivity Hydronephrosis Prominent superficial veins Neoplasm of the breast Secondary amenorrhea Neoplasm of the lung Insulin-resistant diabetes mellitus Abnormality of the voice Premature ovarian insufficiency Abnormality of the thorax Prematurely aged appearance Hyperglycemia Rocker bottom foot Calf muscle hypertrophy Neoplasm of the skin Coronary artery atherosclerosis Ovarian neoplasm Sparse body hair Aplasia/Hypoplasia of the eyebrow Decreased fertility Poor speech Glycosuria Aplasia/Hypoplasia of the skin Fragile nails Progeroid facial appearance Generalized lipodystrophy Lipoatrophy Abnormal hair quantity Type II diabetes mellitus Hypertriglyceridemia Thin skin Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Abnormality of retinal pigmentation Finger clinodactyly Lack of skin elasticity Pili torti Peripheral arterial stenosis Skin ulcer Abnormality of the cerebral vasculature Abnormality of the hair Osteosarcoma Osteolytic defects of the phalanges of the hand Increased bone mineral density Telangiectasia of the skin Constipation Arachnodactyly Dislocated radial head Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Short attention span Hypoplastic iliac wing Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Shawl scrotum Neurofibromas Abnormal cornea morphology Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Recurrent upper respiratory tract infections Low anterior hairline Wide anterior fontanel Exotropia Dental crowding Long eyelashes Broad thumb Mitral regurgitation Medulloblastoma Nasolacrimal duct obstruction Coarctation of aorta Vascular ring Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Duplication of phalanx of hallux Rhabdomyosarcoma Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Low posterior hairline Prominent nose Dry skin Aortic aneurysm Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Long fingers Cortical dysplasia Overfolded helix Sparse eyebrow Elbow dislocation Failure to thrive in infancy Anteverted ears Nasal speech Abnormality of the genitourinary system Sacral dimple Widely spaced teeth Joint dislocation Open mouth Status epilepticus Hypotelorism Focal-onset seizure Everted lower lip vermilion Long face Cleft upper lip Oral cleft Abnormality of the head Chronic infection Dental malocclusion Polydactyly Hypoplasia of the maxilla Recurrent fractures Iris coloboma Hirsutism Thick eyebrow Unsteady gait Abnormality of the pinna EEG abnormality Retrognathia Gastroesophageal reflux Polyhydramnios Narrow mouth Glaucoma Multifocal epileptiform discharges Agenesis of corpus callosum Hyperkeratosis Immunodeficiency Syndactyly Dysphagia Wide nasal bridge Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Hypotrichosis Varicose veins Osteoporosis Irritability Oligohydramnios Tetralogy of Fallot Lymphoma Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Vertigo Anal atresia Facial asymmetry Abnormality of the liver Abnormality of the eye Short palpebral fissure Hypertrophic cardiomyopathy Weight loss Severe short stature Thrombocytopenia Headache Microphthalmia Renal insufficiency Fatigue Fever Hepatomegaly Pancytopenia Choanal atresia Anemia Hypopigmented skin patches Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormality of vision Renal hypoplasia/aplasia Recurrent urinary tract infections Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Short thumb Telangiectasia Visual impairment Ataxia Multiple cafe-au-lait spots Down-sloping shoulders Small nail Apraxia Hypodontia Genu valgum Neonatal hypotonia Jaundice Mandibular prognathia Optic atrophy Fulminant hepatic failure Thoracic kyphoscoliosis Thoracic kyphosis Lymphedema Posterior subcapsular cataract Hepatocellular carcinoma Subcapsular cataract Lipodystrophy Elbow flexion contracture Triangular face Hepatic failure Kyphoscoliosis Abdominal pain Clinodactyly Clumsiness Pointed chin Abnormality of the cerebral ventricles Cavum septum pellucidum Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Advanced eruption of teeth Accelerated skeletal maturation Enlarged cisterna magna High anterior hairline Acute lymphoblastic leukemia Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Precocious puberty Redundant skin Reduced number of teeth Cutis laxa Abnormal dermatoglyphics Myeloid leukemia Acute myeloid leukemia Alopecia Brachydactyly Joint hyperflexibility Attention deficit hyperactivity disorder Sparse hair Autistic behavior Brachycephaly Hyporeflexia Obesity Malar flattening Short neck Anteverted nares Depressed nasal bridge Downturned corners of mouth Feeding difficulties Bifid ureter Renal malrotation Long hallux Retinal coloboma Enlarged kidney Large for gestational age Bowing of the legs Renal dysplasia Intestinal malrotation Wide nose Short foot Renal cyst Short metatarsal Self-biting Pain insensitivity Broad columella Subvalvular aortic stenosis Broad face Tracheomalacia Supernumerary nipple Mild short stature Obsessive-compulsive behavior Self-injurious behavior Short chin Sleep disturbance Multicystic kidney dysplasia Bilateral single transverse palmar creases Short toe Sparse and thin eyebrow Short phalanx of finger Broad-based gait Sparse scalp hair Congenital diaphragmatic hernia Narrow forehead Short metacarpal Broad nasal tip Macroglossia Talipes Abnormality of blood and blood-forming tissues Aplastic anemia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Abnormality of nervous system morphology B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Reticulocytopenia Primary hypothyroidism Intellectual disability, mild Almond-shaped palpebral fissure Talipes equinovarus Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Duodenal stenosis 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 Low-grade fever Meckel diverticulum Duplicated collecting system Plantar crease between first and second toes



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