Lymphoma, and Telecanthus

Diseases related with Lymphoma and Telecanthus

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

Top matches:

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Medium 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

Medium match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Other less relevant matches:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). WS type 2D is caused by mutation in the SNAI2 gene (OMIM ). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2D; WS2D Is also known as waardenburg syndrome, type iid

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Telecanthus
  • Abnormality of skin pigmentation
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2D; WS2D

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Top 5 symptoms//phenotypes associated to Lymphoma and Telecanthus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Leukemia Microcephaly Scoliosis Hearing impairment Growth delay Micrognathia Recurrent infections Thrombocytopenia Cataract Strabismus High forehead Hypertelorism Ptosis Clinodactyly of the 5th finger Seizures Frontal bossing Downslanted palpebral fissures Abnormality of skin pigmentation Webbed neck Short neck Delayed speech and language development Brachydactyly Atrial septal defect Anteverted nares Osteopenia Hydrocephalus Abnormality of the dentition Muscular hypotonia Myopia Neoplasm Nystagmus Abnormality of cardiovascular system morphology Pulmonic stenosis Growth hormone deficiency Generalized hypotonia Low-set ears Low-set, posteriorly rotated ears Hydronephrosis Acute lymphoblastic leukemia Abnormal facial shape Pectus excavatum Macrocephaly

Rare Symptoms - Less than 30% cases

Congestive heart failure Behavioral abnormality Ventriculomegaly Long philtrum Anal stenosis Fine hair Aplasia/Hypoplasia of the corpus callosum Submucous cleft hard palate Ventricular septal defect Underdeveloped supraorbital ridges Failure to thrive Optic atrophy Feeding difficulties Short nose Dolichocephaly Malar flattening Premature birth Abnormal eyelash morphology Multiple cafe-au-lait spots Neurofibromas Aplasia/Hypoplasia of the eyebrow Heart murmur Cubitus valgus Ectropion Relative macrocephaly Abnormal palate morphology Sensorineural hearing impairment Talipes equinovarus Cafe-au-lait spot Low posterior hairline Coarctation of aorta Intestinal malrotation Cerebral atrophy Prominent forehead Hernia Trigonocephaly Abnormal heart morphology Inguinal hernia Constipation Posteriorly rotated ears Proptosis Small for gestational age Feeding difficulties in infancy Sparse hair Abnormal cardiac septum morphology Neurological speech impairment Talipes Bruising susceptibility Eczema Intellectual disability, severe Dry skin Hepatomegaly Postnatal growth retardation Multiple lentigines Abnormal aortic valve morphology Hyperhidrosis Intrauterine growth retardation High palate Anemia Hypoplasia of the corpus callosum Craniosynostosis Narrow forehead Malabsorption Optic nerve hypoplasia Erythema Hypospadias Abnormality of the sternum Attention deficit hyperactivity disorder Upslanted palpebral fissure Hyperextensible skin Immunodeficiency Biparietal narrowing Low anterior hairline Toe syndactyly Cutaneous photosensitivity Delayed skeletal maturation Absent eyebrow Pancytopenia Hypothyroidism Wide nasal bridge Inguinal freckling Hypopigmentation of the skin Flexion contracture Pectus excavatum of inferior sternum Optic nerve glioma Sparse and thin eyebrow Spasticity Clinodactyly Intellectual disability, mild Pes planus Hip dislocation Finger syndactyly Skin rash Coloboma Camptodactyly Intellectual disability, moderate Hypoglycemia Thin upper lip vermilion Aplasia of the epiglottis Retrognathia Syndactyly Hypogonadism Osteoporosis Severe short stature Short distal phalanx of finger Recurrent respiratory infections Agenesis of corpus callosum Patent ductus arteriosus Superior pectus carinatum Microphthalmia Prominent nasolabial fold Wide intermamillary distance Axillary freckling Endocarditis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Spotty hypopigmentation Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Increased nuchal translucency Laryngeal cleft Sparse or absent eyelashes Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Subvalvular aortic stenosis Thickened helices Slow-growing hair Generalized ichthyosis Functional abnormality of the gastrointestinal tract Lisch nodules Multiple palmar creases Secundum atrial septal defect Broad neck Freckling Specific learning disability Midface retrusion Muscle weakness Oral aversion Multiple plantar creases Eyelid fasciculation Abnormality of the auditory canal Tongue thrusting Hypopigmented skin patches Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Profound global developmental delay Hyperkeratosis pilaris Narrow chest Postural instability Facial asymmetry Congenital thrombocytopenia Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Bipolar affective disorder Bilateral camptodactyly Wheezing Transposition of the great arteries Duodenal atresia Megakaryocyte dysplasia Abnormality of the curvature of the vertebral column Bilateral sensorineural hearing impairment Natal tooth Congenital sensorineural hearing impairment Slender finger Gastrointestinal dysmotility Partial agenesis of the corpus callosum Atrioventricular canal defect Eyelid coloboma Arteria lusoria Heterochromia iridis Long hallux Toe clinodactyly Giant platelets Macular hypoplasia Annular pancreas Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Abnormality of the head Internal hemorrhage Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Hypoplastic left heart Cleft palate Hamartoma of tongue Dehydration Short toe Bifid tongue Sinusitis Short thumb Amblyopia Pachygyria Lobulated tongue Abnormal form of the vertebral bodies Microdontia Aortic valve stenosis Otitis media Decreased antibody level in blood Abnormality of the anus Microcornea Single transverse palmar crease Iris coloboma Tachycardia Anal atresia Smooth philtrum Leukodystrophy Spina bifida Flat occiput Molar tooth sign on MRI Hammertoe Absent speech Polydactyly Micropenis Retinopathy Chorioretinal coloboma Postaxial polydactyly Microretrognathia Hand polydactyly Pyloric stenosis Bone marrow hypocellularity Schizophrenia Infantile muscular hypotonia Hamartoma Tachypnea Azoospermia Holoprosencephaly Increased number of teeth Multicystic kidney dysplasia Horseshoe kidney Abnormal mitral valve morphology Abnormality of the nail Deep palmar crease Abnormality of neutrophils Blindness Edema Cardiomyopathy Dysphagia Dysarthria Ataxia Abnormality of thumb phalanx Abnormality of female external genitalia Rectal prolapse Hypertonia Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Cutis marmorata Hypoplastic toenails Vomiting Splenomegaly Sandal gap Umbilical hernia Scarring Respiratory tract infection Irritability Abnormality of the kidney Abnormality of the eye Hypertrophic cardiomyopathy Aggressive behavior EEG abnormality Coarse facial features Kyphosis Macrotia Gastroesophageal reflux Polyhydramnios Autism Hyperkeratosis Cerebral cortical atrophy Alopecia Encephalopathy Depressivity Sacral dimple Spina bifida occulta Pruritus Abnormality of the nervous system Leukocytosis Psoriasiform dermatitis Myelodysplasia Telangiectasia Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Lymphadenopathy Brachycephaly Telangiectasia of the skin Abnormality of the skeletal system Abnormal ventricular septum morphology Abnormality of lateral ventricle B-cell lymphoma Heat intolerance Congenital cataract Cerebellar hypoplasia Motor delay Combined immunodeficiency Severe combined immunodeficiency Abnormality of the fingernails Short foot Narrow face Wide anterior fontanel Chronic diarrhea Broad thumb Sparse scalp hair Sloping forehead Asthma Delayed eruption of teeth Small hand Acute leukemia Joint hyperflexibility Blepharophimosis Wide mouth Protruding ear Respiratory insufficiency Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Abnormality of chromosome stability Pectus carinatum Nail dystrophy Abnormality of refraction Melanocytic nevus Infantile spasms Neurodevelopmental delay Hydroureter Malnutrition Open bite Large for gestational age Obsessive-compulsive behavior Chronic otitis media Pleural effusion Abnormal heart valve morphology Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Poor suck Long palpebral fissure Curly hair Palmoplantar hyperkeratosis Short attention span Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Generalized hyperpigmentation Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Alopecia of scalp Atopic dermatitis Poor appetite Abnormality of vision Delayed gross motor development Abnormality of the cerebral white matter Bulbous nose Abnormal bleeding Abdominal distention Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Falls Nevus Joint hypermobility Long face Peripheral axonal neuropathy Ichthyosis Astigmatism Genu valgum Hypotrichosis Hypermetropia Full cheeks Vesicoureteral reflux Abnormality of the genitourinary system Hyperpigmentation of the skin Sleep apnea Hemangioma Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Cerebral visual impairment Lymphedema Dental malocclusion Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Progressive visual loss Anisopoikilocytosis


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