Lymphoma, and Triangular face

Diseases related with Lymphoma and Triangular face

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

Top matches:

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match MEVALONIC ACIDURIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Other less relevant matches:

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Triangular face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and Triangular face. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation

Common Symptoms - More than 50% cases

Low-set, posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases

Webbed neck Postnatal growth retardation Seizures Thrombocytopenia Pulmonic stenosis Leukemia Cafe-au-lait spot Posteriorly rotated ears Abnormality of cardiovascular system morphology Epicanthus Myelodysplasia Muscular hypotonia Clinodactyly Strabismus Ventricular septal defect Cognitive impairment Pectus excavatum Generalized hypotonia Failure to thrive Depressed nasal bridge Short neck Atrial septal defect Splenomegaly Ptosis High palate Polyhydramnios Hepatosplenomegaly Intrauterine growth retardation Wide intermamillary distance Edema Clinodactyly of the 5th finger Hepatomegaly Hypertelorism Low posterior hairline Cataract Hypertrophic cardiomyopathy Intellectual disability, mild Feeding difficulties Sensorineural hearing impairment Scoliosis Hearing impairment Leukocytosis Lymphadenopathy Kyphoscoliosis Shield chest Fever Coarctation of aorta High forehead Gastroesophageal reflux Abnormal bleeding Neoplasm Dental malocclusion Sparse hair Pectus carinatum Broad forehead Multiple lentigines Reduced factor XII activity Cubitus valgus Failure to thrive in infancy Lymphedema Bruising susceptibility Abnormality of the skeletal system Thick vermilion border Nystagmus Atrioventricular canal defect Small for gestational age Delayed speech and language development Patent foramen ovale Upslanted palpebral fissure Multiple cafe-au-lait spots Wide nasal bridge

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pulmonary artery Juvenile myelomonocytic leukemia Abnormal mitral valve morphology Redundant neck skin Acute leukemia Pulmonary lymphangiectasia Thin vermilion border Pain Amblyopia Anemia Synophrys High, narrow palate Arrhythmia Long philtrum Hypotrichosis Premature skin wrinkling Chylothorax Abnormal pulmonary valve morphology Abnormality of the spleen Proptosis Cleft palate Hypogonadism Hypoplasia of the corpus callosum Brachycephaly Patent ductus arteriosus Abnormality of the thorax Pleural effusion Bilateral ptosis Prominent fingertip pads Abdominal pain Vomiting Deeply set eye Hypospadias Dilatation Synovitis Retrognathia Amegakaryocytic thrombocytopenia Superior pectus carinatum Neurofibrosarcoma Delayed puberty Joint hyperflexibility Tetralogy of Fallot Mitral valve prolapse Abnormality of the genital system Abnormality of the face Left ventricular hypertrophy Scapular winging Curly hair Clumsiness Nevus Severe short stature Male infertility Melanocytic nevus Cystic hygroma Malabsorption Dolichocephaly Skin rash Abnormality of the nervous system Obesity Arnold-Chiari malformation Neuroblastoma Poor suck Myopia Constipation Blepharophimosis Radial deviation of finger Type II diabetes mellitus Acute lymphoblastic leukemia Blue sclerae Decreased body weight Feeding difficulties in infancy Finger clinodactyly Bicuspid aortic valve Pterygium Myopathy Immunodeficiency Cardiomyopathy Frontal bossing Optic atrophy Severe intrauterine growth retardation Severe failure to thrive Motor delay Abnormal heart morphology Hypothyroidism Joint hypermobility Sandal gap Ascites Sloping forehead Aortic valve stenosis Mitral regurgitation Highly arched eyebrow Facial asymmetry Pancytopenia Brachydactyly Hernia Abnormality of the vertebral column Osteolysis Abnormality of blood and blood-forming tissues Gonadal dysgenesis Multicystic kidney dysplasia Rhizomelia Congestive heart failure Depressed nasal ridge Arnold-Chiari type I malformation Short palpebral fissure Abnormality of skin pigmentation Ambiguous genitalia Malignant hyperthermia Long face Headache Drusen Microretrognathia Dandy-Walker malformation Growth hormone deficiency Vaginal neoplasm Wide nose Nonimmune hydrops fetalis Bulbous nose Restrictive cardiomyopathy Atrial flutter Premature chromatid separation Aortic regurgitation Holoprosencephaly Abnormality of immune system physiology Intestinal polyposis Abdominal distention Amenorrhea Ventricular hypertrophy Abnormality of the upper limb Duodenal atresia Abnormality of the skull Primary amenorrhea Rhabdomyosarcoma Stomach cancer Abnormal lung lobation Abnormal cardiac septum morphology Abnormal aortic morphology Colon cancer Epidermoid cyst Plagiocephaly Azoospermia Aplasia/Hypoplasia of the cerebellum Nephroblastoma Increased nuchal translucency Abnormality of vision Elevated alkaline phosphatase Abnormality of the coagulation cascade Abnormality of color vision Sleep apnea Neurofibromas Aplasia/Hypoplasia of the corpus callosum Rod-cone dystrophy Subvalvular aortic stenosis Esodeviation Midface retrusion Schwannoma Prominent digit pad Palmoplantar keratoderma Dry skin Nail dystrophy Pruritus Weight loss Alopecia Tremor Skeletal muscle atrophy Peripheral neuropathy Abnormality of the vestibular nerve Aplasia of lymphatic vessels Neoplasm of the skin Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Prominent nasolabial fold Thickened skin Ectropion Reduced factor XI activity Cutaneous photosensitivity Bird-like facies Abnormality of bone marrow cell morphology Abnormality of chromosome stability Severe combined immunodeficiency Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Psoriasiform dermatitis Low anterior hairline Telangiectasia Hypoplasia of penis Erythroderma Erythema Telecanthus Recurrent infections Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology T-cell lymphoma Lichenification Abnormality of the pleura Gangrene Irregular hyperpigmentation Hyperkeratosis pilaris Abnormal platelet function Asymmetry of the thorax Dysarthria Abnormal dermatoglyphics Hypogonadotrophic hypogonadism Thick lower lip vermilion Otitis media Neurological speech impairment Hydronephrosis Coarse facial features Corneal opacity Talipes equinovarus Dysphagia Muscle weakness Abnormality of the urinary system Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Panuveitis Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Coarse hair Radioulnar synostosis Reduced factor VIII activity Elevated circulating follicle stimulating hormone level Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Thickened helices Abnormality of refraction Myopathic facies Abnormality of the helix Abnormality of the testis High anterior hairline Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Aortic root aneurysm Thoracic scoliosis Abnormality of digit Prolonged bleeding time Abnormality of coagulation Muscular dystrophy Tapered finger Craniosynostosis Short attention span Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Monocytosis Broad toe Hypochromic microcytic anemia B-cell lymphoma Hydrocele testis Reduced prothrombin activity Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Inability to walk Small hand Cholelithiasis Short distal phalanx of finger Reduced factor X activity Torticollis Arthralgia Aciduria Progressive cerebellar ataxia Metabolic acidosis Retinal dystrophy Lactic acidosis Anxiety Abnormality of the liver Elevated hepatic transaminase Hypoglycemia Muscular hypotonia of the trunk Abnormality of the subarachnoid space Acidosis Cerebral cortical atrophy Elevated serum creatine phosphokinase Cerebral atrophy Diarrhea Cerebellar atrophy Smooth philtrum Ataxia Short palm Deep philtrum Vasculitis Large fontanelles Macrocephaly Agitation High pitched voice Delayed cranial suture closure Respiratory distress Truncal obesity Anteverted nares Gait disturbance Reduced subcutaneous adipose tissue Hypertension Inguinal hernia Maternal diabetes Small face Abnormality of the rib cage Perimembranous ventricular septal defect Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Rieger anomaly Lipodystrophy Prominent forehead Bilateral single transverse palmar creases Delayed eruption of teeth Hydrops fetalis Everted lower lip vermilion Hyperpigmentation of the skin Fine hair Epistaxis Cyanosis Hip dysplasia Esotropia Short foot Broad nasal tip Acanthosis nigricans Falls Astigmatism Abnormality of the foot Hypermetropia Epidermal acanthosis Sparse scalp hair Joint laxity Accelerated skeletal maturation Macrotia Underdeveloped nasal alae Petechiae Abnormality of the eye Prominent nose Narrow palate Elbow flexion contracture Narrow face Dental crowding Hypoplasia of dental enamel Pachygyria Cerebellar vermis hypoplasia Convex nasal ridge Broad finger Myeloid leukemia Single transverse palmar crease Thick eyebrow Talipes Hip dislocation Microtia Abnormality of the pinna Hyperlordosis Intellectual disability, moderate Pes planus Clitoral hypertrophy Acute myeloid leukemia Pes cavus Ivory epiphyses Apnea Glaucoma Microphthalmia Short nose Ventriculomegaly Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Small anterior fontanelle Dislocated radial head Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Proportionate short stature Hyperactivity Kyphosis Nuclear cataract Fluctuating hepatomegaly Abnormality of the kidney Neonatal hypotonia Mandibular prognathia Hyperkeratosis Diabetes mellitus Narrow mouth Thin upper lip vermilion Normocytic hypoplastic anemia Fluctuating splenomegaly Morbilliform rash Myocardial infarction Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Specific learning disability Subcutaneous nodule Hypertonia Sprengel anomaly Numerous nevi Hypoplasia of the ovary Abnormal endocardium morphology Excessive wrinkled skin Abnormal localization of kidney Abnormal aortic valve morphology Malar flattening Wolff-Parkinson-White syndrome Right ventricular hypertrophy Severe sensorineural hearing impairment Spina bifida occulta Freckling Decreased fertility Abnormality of the ear External genital hypoplasia Bundle branch block Bilateral cryptorchidism Abnormality of the voice Hyperextensible skin Melanoma Large beaked nose


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