Carcinoma, and Short philtrum

Diseases related with Carcinoma and Short philtrum

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


Top matches:

High 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

Medium match PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC


Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).

PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC Is also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|cided, formerly

Related symptoms:

  • Neoplasm
  • Short neck
  • Long philtrum
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC

Medium 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

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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 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

Medium 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

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

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 GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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

Top 5 symptoms//phenotypes associated to Carcinoma and Short philtrum

Symptoms // Phenotype % cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Failure to thrive Neoplasm Micrognathia Abnormal facial shape Seizures Long philtrum Coarse facial features Clinodactyly Intellectual disability, mild Full cheeks Epicanthus Hepatic failure Feeding difficulties Hypertelorism Joint hypermobility Pulmonic stenosis Ventricular septal defect Cryptorchidism Hypertension Hepatomegaly

Rare Symptoms - Less than 30% cases


Breast carcinoma Peripheral neuropathy Heart murmur High palate Low-set ears Pain Muscle weakness Keratoconus Scoliosis Short neck Cafe-au-lait spot Decreased body weight Thin vermilion border Smooth philtrum Blepharophimosis Thyroid carcinoma Ptosis Cardiomyopathy Epidermal acanthosis Peripheral pulmonary artery stenosis Papillary thyroid carcinoma Hyperhidrosis Hyperkeratosis Pulmonary artery stenosis Cerebral atrophy Kyphoscoliosis Osteoporosis Delayed speech and language development Generalized hypotonia Hypoglycemia Hypertrophic cardiomyopathy Sparse hair Recurrent sinusitis Aortic aneurysm Progressive hearing impairment Cutis laxa Sinusitis Otitis media Wide nose Respiratory failure Long eyelashes Apnea Midface retrusion Malar flattening Narrow palate Thick lower lip vermilion Irritability Thin upper lip vermilion Abnormal heart morphology Abnormality of cardiovascular system morphology Pointed chin Edema Poor suck Feeding difficulties in infancy Thick upper lip vermilion Stomach cancer Myopathy Upslanted palpebral fissure Atrial septal defect Hypertriglyceridemia Downslanted palpebral fissures Delayed puberty Frontal bossing Abnormality of the skeletal system Cirrhosis Short distal phalanx of finger Congestive heart failure Intrauterine growth retardation Hypopigmentation of the skin Renal insufficiency Triangular face Dilatation Round face Prominent nose Delayed skeletal maturation Stroke Macrotia Myopia Scarring Protruding ear Lymphedema Strabismus Abnormality of the liver Elevated hepatic transaminase Deeply set eye Conductive hearing impairment Failure to thrive in infancy Low anterior hairline Prominent nasal bridge Abnormality of the fingernails Short chin Hip dislocation Abnormality of dental enamel Hypoplastic toenails Hoarse voice Abnormal dermatoglyphics Abnormality of the hair Curly hair Hydrops fetalis Wide anterior fontanel Hyperpigmentation of the skin Bone marrow hypocellularity Neuroblastoma Acanthosis nigricans Reduced subcutaneous adipose tissue Redundant skin Relative macrocephaly Pyloric stenosis Tricuspid regurgitation Proximal placement of thumb Hyperextensible skin Rocker bottom foot Laryngomalacia Large for gestational age Infantile muscular hypotonia Pleural effusion Arnold-Chiari malformation Hemangioma Hyperglycemia Dental malocclusion Bilateral cryptorchidism Neurodevelopmental delay Helicobacter pylori infection Eczema Hypoplasia of dental enamel Cerebral cortical atrophy Wide mouth Postnatal growth retardation Low-set, posteriorly rotated ears Intellectual disability, moderate Joint laxity Abnormality of the nervous system Osteopenia Gastroesophageal reflux Polyhydramnios Proptosis Hypogonadism Arthrogryposis multiplex congenita Duodenal stenosis Posteriorly rotated ears Severe short stature Pes cavus Inguinal hernia Arrhythmia Pectus excavatum Hernia Absent speech Short nose Abnormality of the dentition Pectus carinatum Hypermetropia Ovarian neoplasm Premature birth Atrial fibrillation Apraxia Mitral valve prolapse Rhabdomyolysis Overgrowth Chromosome breakage Hip dysplasia Abnormality of the skin Macrodontia Growth hormone deficiency Webbed neck Nevus Joint hyperflexibility Sepsis Macroglossia Tetraplegia Ascites Postural instability Sleep disturbance High, narrow palate Hematuria Thick vermilion border Tachycardia Astigmatism Microphthalmia Neonatal hypoglycemia Ulnar deviation of finger Body odor Vestibular Schwannoma Elevated serum creatine phosphokinase Frontal hirsutism Proximal muscle weakness Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Myalgia Embryonal rhabdomyosarcoma Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Distal amyotrophy Deep-set nails Multifocal atrial tachycardia Cardiomegaly Congenital neuroblastoma Chronic atrophic gastritis Acrania Skeletal muscle atrophy Oral cleft Cleft upper lip Cleft lip Cleft palate Increased corneal curvature Systolic heart murmur Immunodeficiency Thickened Achilles tendon Lymphangiectasis Neonatal sepsis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Obesity Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Broad nasal tip Large face Generalized hyperpigmentation Progeroid facial appearance Verrucae Skeletal myopathy Micronodular cirrhosis Large forehead Periportal fibrosis Ketotic hypoglycemia Achilles tendon contracture Microcephaly Anemia Large earlobe Woolly hair Barrel-shaped chest Ketosis Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Recurrent corneal erosions Hyperlipidemia Papilloma Concave nail Epistaxis Bronchomalacia Fetal distress Ventricular hypertrophy Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Hypoplasia of teeth Central apnea Fasting hypoglycemia Broad philtrum Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Progressive muscle weakness Redundant neck skin Abnormality of the testis Hepatic fibrosis Decreased liver function Lack of skin elasticity Abnormal mitral valve morphology Cerebral calcification Hydrocephalus Hypopigmentation of the fundus Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Fat malabsorption Unicoronal synostosis Abnormal pupil morphology Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Intrahepatic biliary atresia Rectourethral fistula Renal tubular acidosis Corneal neovascularization Bulbous nose Narrow mouth Wide nasal bridge Keratoacanthoma Epidermal hyperkeratosis Finger joint hypermobility Hyperkeratosis pilaris Epidermoid cyst Chronic rhinitis Thick nail Follicular hyperkeratosis Reduced number of intrahepatic bile ducts Parakeratosis Rhinitis Amyloidosis Atrophic scars Squamous cell carcinoma Palmoplantar hyperkeratosis Ectodermal dysplasia Palmoplantar keratoderma Nail dystrophy Papule Butterfly vertebral arch Abnormality of the ureter Telangiectasia of the skin Flexion contracture Vesicoureteral reflux Hypodontia Microcornea Flat face Abnormality of skin pigmentation Stage 5 chronic kidney disease Anal atresia Malabsorption Pruritus Broad forehead Retinopathy Specific learning disability Craniosynostosis Abnormality of the kidney Hepatosplenomegaly Jaundice Acidosis Brachycephaly Prominent forehead Clinodactyly of the 5th finger Areflexia Visual loss Cataract Gastrointestinal hemorrhage Pigmentary retinopathy Prolonged neonatal jaundice Spina bifida occulta Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Finger clinodactyly Tetralogy of Fallot Multicystic kidney dysplasia Hemivertebrae Abnormal vertebral morphology Exotropia Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Scrotal hypoplasia Syndactyly Respiratory insufficiency Short thumb Irregular vertebral endplates Epiphyseal stippling Mixed hearing impairment Emphysema Nasal speech Dermal atrophy Deep philtrum Growth abnormality Spontaneous abortion Leukodystrophy Short phalanx of finger Short hallux Recurrent otitis media Pulmonary arterial hypertension Sloping forehead Memory impairment Underdeveloped nasal alae Asthma Long face Infertility Hypotrichosis Respiratory tract infection Chronic sinusitis Recurrent bronchitis Recurrent respiratory infections Premature fusion of phalangeal epiphyses Ventriculomegaly Talipes equinovarus Dysphagia Macrocephaly Dysarthria Motor delay Cognitive impairment Muscular hypotonia Nystagmus Cartilaginous ossification of larynx Cartilaginous ossification of nose Chronic obstructive pulmonary disease Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Abdominal aortic aneurysm Short nail Shortening of all distal phalanges of the fingers Hydronephrosis Alopecia Facial palsy Opisthotonus Vomiting Spasticity Ataxia Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Renal cell carcinoma Limited elbow extension 2-3 toe syndactyly Hypospadias Radial deviation of finger Cubitus valgus Scaling skin Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Lumbar hyperlordosis Abnormality of the foot Carious teeth Hyperlordosis Camptodactyly Headache Encephalopathy Optic atrophy Cerebral edema Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Episodic vomiting Episodic ataxia Polydactyly Alkalosis Acute hepatic failure Hyperammonemia Pancreatitis Aciduria Gliosis Coma Postaxial polydactyly Confusion Lethargy Mental deterioration Ovarian carcinoma



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