Carcinoma, and Epicanthus

Diseases related with Carcinoma and Epicanthus

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


Top matches:

High match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

High 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

High 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

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Other less relevant 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 HYPOPLASIA

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

High 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 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Low 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

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Top 5 symptoms//phenotypes associated to Carcinoma and Epicanthus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypopigmentation of the skin Short stature Micrognathia Cryptorchidism Failure to thrive Abnormality of the skeletal system Global developmental delay Scoliosis Squamous cell carcinoma Bone marrow hypocellularity Strabismus Sparse hair Coarse facial features Anemia Abnormal facial shape Thrombocytopenia Hypertelorism Cafe-au-lait spot Anteverted nares Depressed nasal bridge Blepharophimosis Pancytopenia Proptosis Joint hypermobility Hepatomegaly Severe short stature Microphthalmia Basal cell carcinoma Irritability Aplastic anemia Neoplasm of the skin Abnormality of cardiovascular system morphology Wide nasal bridge Hyperpigmentation of the skin Frontal bossing Ataxia Hydrocephalus Ptosis Abnormality of the dentition Telangiectasia Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Short neck Respiratory insufficiency Myopia Cardiomyopathy Horseshoe kidney Hypertension Delayed skeletal maturation Muscular hypotonia Absent thumb Cognitive impairment Abnormality of the testis Fragile nails Absent radius Relative macrocephaly Short ribs Spina bifida Abnormality of the ribs Nevus Carious teeth Hypotrichosis EEG abnormality Short thumb Abnormality of the kidney Alopecia Feeding difficulties Abnormality of the nervous system Abnormality of chromosome stability Large face Osteoporosis Hypoplastic anemia Long philtrum Nystagmus Decreased body weight High palate Seizures Ventriculomegaly Atrial septal defect Renal insufficiency Hypogonadism B-cell lymphoma Sparse eyelashes Joint laxity Joint hyperflexibility Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Pectus carinatum Leukemia Arthrogryposis multiplex congenita Short palpebral fissure Aganglionic megacolon Abnormality of skin pigmentation Astigmatism Postnatal growth retardation Neutropenia Postural instability Lymphoma Kyphoscoliosis Visual impairment Cleft palate Motor delay Clinodactyly Macrocephaly Cerebral atrophy Narrow palate Hypospadias Dysarthria Smooth philtrum Postaxial polydactyly Long eyelashes Cataract Polydactyly Hip dislocation Delayed speech and language development Intrauterine growth retardation Poikiloderma Downslanted palpebral fissures Headache Upslanted palpebral fissure Thick lower lip vermilion Ovarian carcinoma Bulbous nose Duodenal stenosis Spasticity Thick upper lip vermilion Edema Brachycephaly Chromosome breakage Pectus excavatum Cirrhosis Small nail Nail dysplasia Hyperhidrosis Nail dystrophy Hypoglycemia Pes cavus Osteopenia Absent speech Cerebral cortical atrophy Gastroesophageal reflux Polyhydramnios Hyperkeratosis Microdontia Inguinal hernia Respiratory failure Arrhythmia Hernia Posteriorly rotated ears Lymphangiectasis Scrotal hypoplasia Tetraplegia Epidermal acanthosis Apraxia Mitral valve prolapse Eczema Overgrowth Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Full cheeks Sepsis Macroglossia Ascites Intellectual disability, moderate Sleep disturbance High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Delayed puberty Pulmonic stenosis Triangular face Prominent nose Short nose Wide mouth Feeding difficulties in infancy Apnea Hypermetropia Abnormality of the preputium Intellectual disability, mild Abnormality of femur morphology Duplicated collecting system Pterygium of nails Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal localization of kidney Abnormal renal morphology Hypoplasia of the radius Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Vitiligo Bicornuate uterus Low-grade fever Abnormality of the thumb Pelvic kidney Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Meckel diverticulum Aplasia/Hypoplasia of the iris Myopathy Neoplasm of head and neck Talipes equinovarus Ventricular septal defect Dysphagia Sparse scalp hair Low-set ears Generalized hypotonia Hypoplasia of dental enamel Hepatic fibrosis Pterygium Pyridoxine-responsive sideroblastic anemia Epiphora Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Pulmonary fibrosis Oral leukoplakia Complete duplication of thumb phalanx Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Nasolacrimal duct obstruction Chromosomal breakage induced by crosslinking agents Esophageal stricture Decreased mean platelet volume Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Atrial fibrillation Abnormality of the fingernails Thin vermilion border Hyperextensibility of the finger joints Melena Hematemesis Deep plantar creases Thin nail Papilloma Bronchomalacia Photophobia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Pneumothorax Capillary malformation Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Lack of skin elasticity Central apnea Verrucae Large forehead Triangular mouth Bladder neoplasm Large earlobe Multifocal atrial tachycardia Alveolar rhabdomyosarcoma Thickened Achilles tendon Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Systolic heart murmur Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Embryonal rhabdomyosarcoma Abnormal pulmonary valve morphology Deep-set nails Increased corneal curvature Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Hyperactivity Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Achilles tendon contracture Woolly hair Wide anterior fontanel Arnold-Chiari malformation Hyperglycemia Entropion Squamous cell carcinoma of the skin Cutaneous melanoma Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Defective DNA repair after ultraviolet radiation damage Hypoplastic toenails Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Congenital neuroblastoma Short chin Abnormality of dental enamel Narrow mouth Pointed chin Hoarse voice Abnormality of the hair Hydrops fetalis Lymphedema Bilateral cryptorchidism Tricuspid regurgitation Progeroid facial appearance Dermal atrophy Barrel-shaped chest Megalencephaly Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Cutaneous photosensitivity Conjunctivitis Melanoma Central hypotonia Rocker bottom foot Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Systemic lupus erythematosus Neuroblastoma Ectropion Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Keratitis Large for gestational age Freckling Myeloid leukemia Fever Hydroureter Skin tags Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Vertebral wedging Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Abnormality of the sense of smell Parietal bossing Spina bifida occulta Hamartomatous stomach polyps Narrow chest Malabsorption Hyperlordosis Skeletal dysplasia Macrotia Prominent forehead Pneumonia Constipation Recurrent infections Dilatation Immunodeficiency Splenomegaly Diarrhea Irregular ossification of hand bones Multiple impacted teeth Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Glomerulonephritis Hemivertebrae Short palm Alkalosis Conductive hearing impairment Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Episodic vomiting Cerebral edema Episodic ataxia Acute hepatic failure Dental malocclusion Hyperammonemia Pancreatitis Aciduria Gliosis Coma Hepatic failure Confusion Lethargy Stroke Mental deterioration Thin upper lip vermilion Encephalopathy Vomiting Peripheral neuropathy Prominent nasal bridge Low anterior hairline Hypogonadotrophic hypogonadism Facial palsy Muscle stiffness Bradycardia Exotropia Hemiparesis Cerebral calcification Hypotension Palmoplantar keratoderma Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Papule Coloboma Cleft lip Breast carcinoma Telecanthus Proteinuria Retrognathia Mandibular prognathia Glaucoma Abdominal pain Visual loss Syndactyly Brachydactyly Pain Macrodontia Stomach cancer Ovarian neoplasm Proximal placement of thumb Micromelia Small hand Ectopic kidney Hyperreflexia Small for gestational age Abnormality of the liver Abnormality of the eye Pes planus Umbilical hernia Hypothyroidism Weight loss Diabetes mellitus Clinodactyly of the 5th finger Patent ductus arteriosus Congestive heart failure Respiratory distress Fatigue Pulmonary lymphoma Dolichocephaly Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Finger syndactyly Toe syndactyly Abnormal bone ossification Leukopenia Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Type I diabetes mellitus Abnormality of the foot Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Recurrent urinary tract infections Abnormality of the genital system Choanal atresia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Bruising susceptibility Vertigo Anal atresia Facial asymmetry Abnormally ossified vertebrae Neonatal short-limb short stature Gastrointestinal hemorrhage Lymphopenia Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Accelerated skeletal maturation Hypocalcemia Sparse and thin eyebrow Limited elbow extension Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Convex nasal ridge Decreased antibody level in blood Femoral bowing Tibial bowing Congenital hypoplastic anemia Generalized joint laxity Spinal dysraphism Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Tracheal stenosis Abnormality of the hip bone Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Squamous cell carcinoma of the tongue



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Tall stature, related diseases and genetic alterations Brachydactyly and Areflexia, related diseases and genetic alterations Tremor and Coarctation of aorta, related diseases and genetic alterations Myopathy and Systemic lupus erythematosus, related diseases and genetic alterations Immunodeficiency and Hodgkin lymphoma, related diseases and genetic alterations Failure to thrive and Hypertrichosis, related diseases and genetic alterations

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