Carcinoma, and Microtia

Diseases related with Carcinoma and Microtia

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


Top matches:

High match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Low 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

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Other less relevant matches:

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

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 ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Top 5 symptoms//phenotypes associated to Carcinoma and Microtia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Global developmental delay Intellectual disability, mild Conductive hearing impairment Seizures Macrotia Cryptorchidism Atrial septal defect Hypertension Coarse facial features Abnormality of the kidney Ventricular septal defect Hypodontia Scoliosis Otitis media Short stature Strabismus Dilatation Micrognathia Macrocephaly Pain Respiratory failure Hydronephrosis Abnormality of the skeletal system Prominent forehead Vesicoureteral reflux Depressed nasal bridge Thyroid carcinoma Low-set ears

Rare Symptoms - Less than 30% cases


Intellectual disability, moderate Progressive hearing impairment Optic atrophy Poor coordination Hepatocellular carcinoma Heterotopia Asthma Behavioral abnormality Acidosis Respiratory insufficiency Apnea Talipes equinovarus Hyperreflexia High palate Feeding difficulties Clinodactyly Hypothyroidism Round face Protruding ear Abnormality of metabolism/homeostasis Cutis laxa Respiratory tract infection Large hands Jaundice Frontal bossing Downslanted palpebral fissures Generalized hypotonia Papilloma Joint hypermobility Overgrowth Macroglossia Pneumonia Lymphedema Abnormal vertebral morphology Pointed chin Accelerated skeletal maturation Nephroblastoma Prolonged neonatal jaundice Pulmonic stenosis Neuroblastoma Papillary thyroid carcinoma Peripheral pulmonary artery stenosis Pulmonary artery stenosis Recurrent sinusitis Teratoma Growth abnormality Heart murmur Sinusitis Recurrent otitis media Sloping forehead Hepatomegaly Intrauterine growth retardation Short distal phalanx of finger Renal cell carcinoma Abnormal heart morphology Proptosis Hypertriglyceridemia Malar flattening Short nose Stroke Carious teeth Delayed eruption of teeth Cardiomegaly Congestive heart failure Infertility Cardiomyopathy Osteoporosis Delayed puberty Hypercholesterolemia Flexion contracture Dermal atrophy Cataract Hypermetropia Hypotrichosis Sensorineural hearing impairment Failure to thrive Growth delay Nasal speech Alopecia Band keratopathy Axenfeld anomaly Vitamin D deficiency Edema Renal artery stenosis Portal hypertension Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Respiratory distress Unicoronal synostosis Cleft palate Abnormality of the cerebral ventricles Small cell lung carcinoma Reduced number of intrahepatic bile ducts Rectourethral fistula Butterfly vertebrae Biliary atresia Coronal craniosynostosis Abdominal distention Postural instability Renal cyst Postaxial polydactyly Pulmonary hypoplasia Attention deficit hyperactivity disorder Wide mouth Hypoglycemia Umbilical hernia Polyhydramnios Intrahepatic cholestasis Hernia Peripheral arterial stenosis Cholestatic liver disease Polydactyly Abnormal pupil morphology Fat malabsorption Hypopigmentation of the fundus Hyperactivity Arterial stenosis Myoclonus Abnormal anterior chamber morphology Gray matter heterotopias Overbite Sacrococcygeal teratoma Apraxia Squamous cell carcinoma Autoimmune hemolytic anemia Narrow palate Hodgkin lymphoma Narrow face Tall stature Hypoplasia of dental enamel Clumsiness Bronchiolitis Small nail Renal agenesis Reduced number of teeth Bronchiolitis obliterans High, narrow palate Genu valgum Dolichocephaly Leukemia Opportunistic infection Joint laxity Aggressive behavior Neonatal hypotonia Pes planus Abnormal dermatoglyphics Redundant skin Expressive language delay Advanced eruption of teeth Hyperplasia of the maxilla Butterfly vertebral arch Hamartomatous polyposis Dandy-Walker malformation Abnormal glucose tolerance Anemia Periventricular leukomalacia Oxycephaly Immunodeficiency Cavum septum pellucidum Long foot Precocious puberty Enlarged cisterna magna Hemolytic anemia High anterior hairline Lymphoma Acute lymphoblastic leukemia Inflammatory abnormality of the skin Lymphopenia Partial agenesis of the corpus callosum Agenesis of permanent teeth Psoriasiform dermatitis Nevus Recurrent urinary tract infections Omphalocele Brachycephaly Malabsorption Pruritus Broad forehead Short philtrum Retinopathy Scarring Abnormality of the liver Craniosynostosis Elevated hepatic transaminase Deeply set eye Hepatosplenomegaly Upslanted palpebral fissure Stage 5 chronic kidney disease Clinodactyly of the 5th finger Delayed skeletal maturation Areflexia Visual loss Renal insufficiency Myopia Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Anal atresia Abnormality of skin pigmentation Nephroblastomatosis Nephrotic syndrome Corneal dystrophy Glomerulosclerosis Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Exotropia Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Renal hypoplasia Hypoplasia of the ulna Cirrhosis Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Gastrointestinal hemorrhage Prominent nose Triangular face Microcornea Hypopigmentation of the skin Flat face Hepatic failure Vitreomacular adhesion Thymus hyperplasia Renal hypoplasia/aplasia Posterior embryotoxon Protuberant abdomen Aniridia Prominent metopic ridge Telangiectasia of the skin Keratoconus Renal tubular acidosis Abnormality of the ureter Congenital hypothyroidism Hamartoma Broad palm Tibial bowing Abnormality of the ear Enlarged kidney Prominent occiput Large for gestational age Exocrine pancreatic insufficiency Hypercalciuria Prominent supraorbital ridges Polycystic kidney dysplasia Dilatation of the cerebral artery Abnormality of the outer ear Nephrocalcinosis Abnormality of the vasculature Nephrolithiasis Large fontanelles Foot polydactyly Nevus flammeus Abdominal mass Diaphragmatic eventration Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Prune belly Renal cortical cysts Embryonal neoplasm Malnutrition Vertebral segmentation defect Abdominal wall defect Unilateral cryptorchidism Neonatal hypoglycemia Chorioretinal atrophy Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Long nose Nonimmune hydrops fetalis Diastasis recti Ketosis Hepatoblastoma Shortening of all distal phalanges of the fingers Mandibular prognathia Down-sloping shoulders Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Fragile nails Decreased serum estradiol Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Short clavicles Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Lipoatrophy Thin bony cortex Prolonged prothrombin time Prolonged QT interval Mitral valve calcification Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Parietal bossing Carcinoid tumor Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Narrow nasal ridge Arteriosclerosis Exertional dyspnea Premature graying of hair Regional abnormality of skin Hip dislocation Abnormality of the cardiovascular system Cyanosis Convex nasal ridge Nail dysplasia Growth hormone deficiency Limitation of joint mobility Chest pain Hepatic steatosis Thin vermilion border Narrow chest Dilated cardiomyopathy Osteoarthritis Sparse hair Joint stiffness Hypertrophic cardiomyopathy Osteopenia Dyspnea Narrow mouth Hypogonadism Dementia Kyphosis Abnormality of the dentition Skeletal muscle atrophy Myocardial infarction Thin skin High pitched voice Osteolysis Multiple joint contractures Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Intracranial hemorrhage Relative macrocephaly Acanthosis nigricans Hyperlipidemia Atherosclerosis Aminoaciduria Broad-based gait Coxa valga Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Left ventricular hypertrophy Decreased body weight Abnormal trabecular bone morphology Arteriosclerosis of small cerebral arteries Patent ductus arteriosus Irregular vertebral endplates Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Abdominal aortic aneurysm Short nail Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Chronic sinusitis Epiphyseal stippling Costal cartilage calcification Mixed hearing impairment Emphysema Aortic aneurysm Deep philtrum Spontaneous abortion Leukodystrophy Short thumb Short phalanx of finger Pulmonary arterial hypertension Cerebral calcification Memory impairment Soft, doughy skin Calcification of the auricular cartilage Wide nose Loss of consciousness Ventriculomegaly Delayed speech and language development Nystagmus Choroid plexus carcinoma Choroid plexus papilloma Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Upper limb undergrowth Increased intracranial pressure Cartilaginous ossification of nose Sleep apnea Hypertrichosis Nausea High forehead Micropenis Depressivity Recurrent infections Headache Vomiting Hydrocephalus Cartilaginous ossification of larynx Premature fusion of phalangeal epiphyses Underdeveloped nasal alae Long face Tapering pointed ends of distal finger phalanges Abnormality of the inner ear Long philtrum Anteverted nares Peripheral neuropathy Muscle weakness Thyroid nodule Enlarged vestibular aqueduct Euthyroid goiter Unilateral deafness Compensated hypothyroidism Hypoplasia of the cochlea Cochlear malformation Metabolic alkalosis Hyperhidrosis Alkalosis Tracheal stenosis Hyperparathyroidism Abnormality of the thyroid gland Vestibular dysfunction Congenital sensorineural hearing impairment Goiter Bilateral sensorineural hearing impairment Nephropathy Vertigo Neurological speech impairment Ataxia Syndactyly Kyphoscoliosis Recurrent respiratory infections 2-3 toe syndactyly Aciduria Bruising susceptibility Agenesis of corpus callosum Tremor Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Limited elbow extension Opisthotonus Radial deviation of finger Facial palsy Cubitus valgus Scaling skin Poor suck Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Lumbar hyperlordosis Full cheeks Abnormality of the foot Hyperlordosis Feeding difficulties in infancy Camptodactyly Bronchiolitis obliterans organizing pneumonia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Prominent nasal bridge, related diseases and genetic alterations Macrocephaly and Confusion, related diseases and genetic alterations Muscle weakness and Narrow forehead, related diseases and genetic alterations Scoliosis and Hernia, related diseases and genetic alterations Muscular hypotonia and Polycystic kidney dysplasia, related diseases and genetic alterations Microcephaly and Craniosynostosis, related diseases and genetic alterations

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