Lymphoma, and Skeletal dysplasia

Diseases related with Lymphoma and Skeletal dysplasia

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


Top matches:

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match NASU-HAKOLA DISEASE


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Low match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Skeletal dysplasia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Failure to thrive Leukemia Immunodeficiency Microdontia Diarrhea Abnormality of the skeletal system Depressed nasal bridge Abnormality of the metaphysis Scoliosis Severe short stature Abnormality of epiphysis morphology Metaphyseal chondrodysplasia Cellular immunodeficiency Strabismus Hypertension Neoplasm Malabsorption Osteopenia Recurrent infections Frontal bossing Abnormality of the dentition Neonatal short-limb short stature Hyperlordosis Micromelia Abnormality of pelvic girdle bone morphology Lumbar hyperlordosis Delayed skeletal maturation Abnormal form of the vertebral bodies Short thorax Hypotrichosis Upper limb undergrowth Pneumonia Short ribs Disproportionate short-limb short stature Edema Hepatomegaly Pectus carinatum Narrow chest

Rare Symptoms - Less than 30% cases


Short neck Intrauterine growth retardation Generalized joint laxity Myopia Cognitive impairment Seizures Cardiomyopathy Ventricular septal defect Polydactyly EEG abnormality Tibial bowing Disproportionate short stature Myeloid leukemia Myelodysplasia Limited elbow extension Spondyloepiphyseal dysplasia Eczema Epiphyseal dysplasia Genu varum Mild short stature Short long bone Rhizomelia Abnormal lung morphology Global developmental delay Dementia Nail dystrophy Fine hair Abnormal T cell morphology Mucopolysacchariduria B-cell lymphoma Ovoid vertebral bodies Steatorrhea Emphysema Gingival overgrowth Reduced bone mineral density Bone marrow hypocellularity Recurrent otitis media Heterotopia Metaphyseal widening Kyphosis Squamous cell carcinoma Gliosis Basal cell carcinoma Exocrine pancreatic insufficiency Aplastic anemia Metaphyseal dysostosis Developmental regression Abnormality of the kidney Gait disturbance Apraxia Acute leukemia Lymphopenia Prominent forehead Hypothyroidism Short toe Alopecia Hydrocephalus Ventriculomegaly Macrocephaly Arthralgia Motor delay Pain Recurrent bacterial infections Generalized hypotonia Autoimmunity Scarring Joint hyperflexibility Combined immunodeficiency Sepsis Recurrent viral infections Nephrotic syndrome Splenomegaly Fever Prematurely aged appearance Primitive reflex Bone cyst Disinhibition Cerebral edema Senile plaques Papule Neurofibrillary tangles Hepatosplenomegaly Abnormal upper motor neuron morphology Axonal loss Basal ganglia calcification Pathologic fracture Alzheimer disease Personality changes Hypertelorism Abnormality of the hand Inappropriate behavior Agnosia Absent eyelashes Nausea and vomiting Absent eyebrow Osteosarcoma Brittle hair Hypoplasia of the radius Short thumb Cutaneous photosensitivity Palmoplantar keratoderma Poikiloderma Skin rash Frontal lobe dementia Concave nasal ridge Hypogonadism Leukoencephalopathy Euphoria Lack of insight Abnormal adipose tissue morphology Hypoplasia of teeth Caudate atrophy Functional abnormality of the gastrointestinal tract Cataract Osteoarthritis Oculomotor apraxia Large face Lymphadenopathy Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Spinal dysraphism Hypersplenism Sparse facial hair Normocytic anemia Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Tracheal stenosis Fair hair Impaired lymphocyte transformation with phytohemagglutinin Severe T-cell immunodeficiency Bone pain Cerebral cortical atrophy Pruritus Peripheral demyelination Memory impairment Urinary incontinence Limitation of joint mobility Chorea Abnormality of movement Abnormality of the foot Neurological speech impairment Irritability Aggressive behavior Myoclonus Biconvex vertebral bodies Babinski sign Cerebral atrophy Behavioral abnormality Hypoplasia of the corpus callosum Dry skin Spasticity Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Cerebral calcification Lower limb hyperreflexia Pes cavus Abnormality of the hair Hypoplastic left heart Hydroureter Dextrocardia Hypoplastic toenails Cubitus valgus Hand polydactyly Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Situs inversus totalis Agenesis of permanent teeth Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Renal agenesis Nail dysplasia Ectodermal dysplasia Hypodontia Delayed eruption of teeth Postaxial polydactyly Short distal phalanx of finger Thoracic hypoplasia Atrioventricular canal defect Cleft upper lip Horizontal ribs Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Abnormal oral mucosa morphology Epispadias Abnormal heart valve morphology Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Thin vermilion border Genu valgum Umbilical hernia Hyposegmentation of neutrophil nuclei Specific learning disability Generalized muscle weakness Ichthyosis Carious teeth Small for gestational age Respiratory tract infection Elevated hepatic transaminase Intellectual disability, mild Respiratory distress Short 3rd metacarpal Folate deficiency Decreased liver function Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Acute lymphoblastic leukemia Foot dorsiflexor weakness Generalized tonic-clonic seizures Pancytopenia Type I diabetes mellitus Abnormal heart morphology Proximal femoral metaphyseal irregularity Hypospadias Abnormality of cardiovascular system morphology Atrial septal defect Talipes equinovarus Cryptorchidism Cleft palate Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Myocardial necrosis Enlargement of the costochondral junction Nephrocalcinosis Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Recurrent aphthous stomatitis Acute monocytic leukemia Acute myeloid leukemia Multiple lipomas Neonatal respiratory distress Leukopenia Coxa vara Heart block Hodgkin lymphoma Overweight Vomiting Stroke Flexion contracture Delayed speech and language development Proteinuria Thin upper lip vermilion Hyperreflexia Brachydactyly Headache Renal insufficiency Congestive heart failure Cerebellar atrophy Hip dislocation Malar flattening Midface retrusion Obesity Weight loss Abnormal facial shape Gastroesophageal reflux Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Corneal opacity Platyspondyly Brain stem compression Severe B lymphocytopenia Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Intellectual disability, profound Decreased testicular size Astigmatism Waddling gait Premature birth Migraine Brain atrophy Abnormal cerebellum morphology Hearing impairment Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Limited hip extension Childhood onset short-limb short stature Coarse hair Oral cleft Conductive hearing impairment Abnormality of the nervous system Cleft lip Apnea Bowel incontinence Short femoral neck Flared metaphysis Chronic otitis media Back pain Confusion Tinnitus Hip contracture Sleep disturbance Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Otitis media Recurrent urinary tract infections Overgrowth Epidermal acanthosis Neuroblastoma Spinal canal stenosis Small foramen magnum Hypoxemia Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Multiple epiphyseal dysplasia Abnormality of the elbow Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Rigidity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea B lymphocytopenia Chronic kidney disease Thrombocytosis Postural instability Abnormality of retinal pigmentation Bronchiectasis Aganglionic megacolon Bowing of the long bones Depressed nasal ridge Blue sclerae Abnormality of the ribs Convex nasal ridge Decreased antibody level in blood Gastrointestinal hemorrhage Hypopigmentation of the skin Sparse and thin eyebrow Small hand Short palm Joint hypermobility Eosinophilia Arthrogryposis multiplex congenita Scaling skin Abnormal cardiac septum morphology Sparse hair Low-set, posteriorly rotated ears Joint laxity Shock Hypocalcemia Erythroderma Thickened skin Inflammatory abnormality of the skin Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Tetraparesis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Femoral bowing Sparse eyelashes Mesomelia Chronic diarrhea Cone-shaped epiphysis Increased body weight Portal hypertension Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Carcinoma Macrotia Encephalitis Abnormality of the vasculature Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Severe combined immunodeficiency Disproportionate short-trunk short stature Hypoproteinemia Thoracic kyphosis Transient ischemic attack Protuberant abdomen Right ventricular cardiomyopathy Glomerulopathy Multiple cafe-au-lait spots Hypermelanotic macule High pitched voice Hypoplasia of the thymus Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Glomerulonephritis Glomerulosclerosis Dentinogenesis imperfecta Arteriosclerosis Brachycephaly Lateral displacement of the femoral head Leukocytosis Constipation Dilatation Respiratory insufficiency Anteverted nares Wide nasal bridge Epicanthus Visual impairment Muscular hypotonia Aplasia/Hypoplasia of the eyebrow Nephrosclerosis Hypoplasia of the capital femoral epiphysis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Thyroiditis Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Hashimoto thyroiditis Cone-shaped epiphyses of phalanges 2 to 5



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Lissencephaly, related diseases and genetic alterations Lymphoma and Glucose intolerance, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more