Carcinoma, and Smooth philtrum

Diseases related with Carcinoma and Smooth philtrum

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


Top matches:

High 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

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

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

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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 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 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 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 Smooth 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
Neoplasm 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 Smooth philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Stomach cancer, related diseases and genetic alterations Macrocephaly and Jaundice, related diseases and genetic alterations Lymphoma and Malabsorption, related diseases and genetic alterations Muscle weakness and Pallor, related diseases and genetic alterations Scoliosis and Heterotopia, related diseases and genetic alterations Carcinoma and Camptodactyly of finger, related diseases and genetic alterations

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