Lymphoma, and Flat face

Diseases related with Lymphoma and Flat face

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


Top matches:

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match SÉZARY 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

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Other less relevant matches:

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Low match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Malar flattening Global developmental delay Erythema Skin rash Abnormal facial shape Microcephaly Strabismus Hearing impairment Anemia Epicanthus Clinodactyly of the 5th finger Generalized hypotonia Wide nasal bridge Micrognathia Cataract Thick lower lip vermilion Type II diabetes mellitus Upslanted palpebral fissure Abnormality of the skeletal system Abnormality of the dentition Edema

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Thickened skin Abnormality of the face Lymphadenopathy Dry skin Pruritus Muscular hypotonia Pneumonia Weight loss Prominent forehead Mandibular prognathia Gangrene Hepatomegaly Cognitive impairment High palate Specific learning disability Prominent nose Otitis media Sinusitis Skin ulcer Squamous cell carcinoma Myopia Hypertelorism T-cell lymphoma Protruding ear Asthma Failure to thrive Scoliosis Seizures Recurrent respiratory infections Abnormality of chromosome stability Acute leukemia Severe combined immunodeficiency Telangiectasia of the skin Combined immunodeficiency Myelodysplasia Telangiectasia Atopic dermatitis Cutaneous photosensitivity Eczema Inflammatory abnormality of the skin Bronchiectasis Abnormality of the nervous system Brachydactyly Cryptorchidism Hydrocephalus Growth delay Recurrent skin infections Acute monocytic leukemia Wide nose Short nose Conductive hearing impairment Depressed nasal bridge Hypotrichosis Glaucoma Neutropenia Sarcoma Postural instability Cellulitis Nystagmus Acute myeloid leukemia Visual loss Hypothyroidism Blindness Osteosarcoma Severe short stature Thrombocytopenia Brachycephaly Intellectual disability, mild Polydactyly Chromosome breakage Hypoplastic pelvis Chronic lung disease Malar rash Hypoplasia of the zygomatic bone Leukocoria Soft tissue sarcoma Chronic obstructive pulmonary disease Abnormality of the nose Ocular pain Leiomyosarcoma IgM deficiency Decreased fertility in females Anisocoria Female infertility Glioblastoma multiforme Vitreous hemorrhage Spotty hypopigmentation Spotty hyperpigmentation Neoplasm of the gastrointestinal tract Retinoblastoma Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Spasticity IgG deficiency Hyperhidrosis Hodgkin lymphoma Diarrhea Cafe-au-lait spot Hypertrichosis Retinal calcification Pineoblastoma Neuroblastic tumors Intrauterine growth retardation Cardiomyopathy Abnormality of the skin Azoospermia Decreased antibody level in blood Ichthyosis Infertility Dolichocephaly Syndactyly Delayed skeletal maturation Finger syndactyly Postnatal growth retardation Narrow face Pinealoma IgA deficiency Liposarcoma Diabetes mellitus Myeloid leukemia Fibrosarcoma Burkitt lymphoma Pulmonary fibrosis Vitritis High pitched voice Histiocytoma Sebaceous gland carcinoma Sacral dimple Neoplasm of the eye Hyphema Ewing sarcoma Hand polydactyly Pineal cyst Reduced number of teeth Hypopigmented skin patches Iris neovascularization Plagiocephaly Long philtrum Ptosis Congenital microcephaly Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Retinal fold Depressivity Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Abnormal eyelash morphology Underdeveloped supraorbital ridges Chorioretinal atrophy Cortical gyral simplification Chorioretinal lacunae Abnormality of the foot Flat occiput Cervical myelopathy Madelung-like forearm deformities Protuberances at ends of long bones Peripheral nerve compression Scapular exostoses Rib exostoses Enchondroma Pelvic bone exostoses Long nose Osteochondroma Multiple exostoses Genu valgum Chondrosarcoma Madelung deformity Exostoses Pathologic fracture Craniofacial dysostosis Short finger Hypophosphatemia Hemangioma Coxa vara Short metacarpal Agitation Anophthalmia Optic atrophy Macrotia Corneal opacity Attention deficit hyperactivity disorder Retinopathy Aggressive behavior Neonatal hypotonia Rigidity Buphthalmos Thin upper lip vermilion Shallow orbits Narrow nose Astigmatism Reduced visual acuity Hyperactivity Microphthalmia Broad hallux Hypertonia Intellectual disability, severe Atrial septal defect Hypoplasia of the corpus callosum Anteverted nares Downslanted palpebral fissures Hypermetropia Retinal dystrophy Scaling skin Amblyopia Patent foramen ovale Bilateral ptosis Deep philtrum Optic nerve hypoplasia Venous thrombosis Pointed chin Muscle stiffness Lymphedema Abnormality of retinal pigmentation Subcutaneous nodule Thick vermilion border Status epilepticus Bilateral sensorineural hearing impairment Sloping forehead Pigmentary retinopathy Overgrowth Full cheeks Broad nasal tip Microcornea Sleep disturbance Retinal detachment Inflammatory abnormality of the eye Bronchitis Astrocytoma Short middle phalanx of the 5th finger Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Complete atrioventricular canal defect Transient myeloproliferative syndrome Pulmonary edema Hypoxemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Crackles Brushfield spots Polycythemia Nail dystrophy Abnormal lymphocyte morphology Lichenification Abnormality of the pleura Irregular hyperpigmentation Erythroderma Ectropion Neoplasm of the skin Palmoplantar keratoderma Hepatosplenomegaly Round ear Alopecia Splenomegaly Tremor Skeletal muscle atrophy Fever Peripheral neuropathy Acute megakaryocytic leukemia Left-to-right shunt Protruding tongue Neurofibrillary tangles Cutaneous T-cell lymphoma Hydronephrosis Downturned corners of mouth Postaxial polydactyly Short palm Anal atresia Microtia Developmental regression Joint laxity Umbilical hernia Macroglossia Narrow mouth Dementia Abnormal heart morphology Obesity Abnormality of cardiovascular system morphology Short neck Gait disturbance Hypertension Single transverse palmar crease Microdontia Congenital hypothyroidism Hydroureter Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Transposition of the great arteries Broad palm Atrioventricular canal defect Decreased fertility Alzheimer disease Depressed nasal ridge Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Sandal gap Narrow palate Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Abnormal immunoglobulin level Delayed speech and language development Anemia of inadequate production Increased IgE level Eczematoid dermatitis Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Red hair Recurrent sinopulmonary infections Onychomycosis Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Chronic otitis media Urticaria Eosinophilia Recurrent bacterial skin infections Severe viral infections Hemivertebrae Vomiting Uveitis Neurofibromas Increased intracranial pressure Anorexia Abnormality of skin pigmentation Carcinoma Proptosis Headache Visual impairment Recurrent Staphylococcus aureus infections Pain Cleft palate Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent bacterial infections Recurrent fractures Telecanthus Bird-like facies Respiratory tract infection Gastroesophageal reflux Myoclonus Hyporeflexia Dysarthria Ataxia Large beaked nose Abnormality of bone marrow cell morphology Sensory impairment Biparietal narrowing Leukocytosis Psoriasiform dermatitis Low anterior hairline Pancytopenia Hypoplasia of penis Thin vermilion border Malabsorption Hemolytic anemia Lymphopenia Joint hypermobility Dysphagia Facial asymmetry Cough Craniosynostosis Deeply set eye Coarse facial features Osteopenia Osteoporosis Constipation Frontal bossing Vasculitis Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Glomerulonephritis Leukopenia Narrow palpebral fissure Duplication of phalanx of hallux



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