Lymphoma, and Polydactyly

Diseases related with Lymphoma and Polydactyly

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

Top matches:

Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

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 EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Other less relevant matches:

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

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

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

LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL Is also known as lymphomatous all

Related symptoms:

  • Lymphoma
  • T-cell acute lymphoblastic leukemias


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.

NON-HODGKIN LYMPHOMA Is also known as nhl|non-hodgkin lymphoma

Related symptoms:

  • Neoplasm
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • B-cell lymphoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about NON-HODGKIN LYMPHOMA

Top 5 symptoms//phenotypes associated to Lymphoma and Polydactyly

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hodgkin lymphoma Anemia Cryptorchidism Mild short stature Abnormality of the dentition Acute myeloid leukemia Hand polydactyly

Rare Symptoms - Less than 30% cases

Myeloid leukemia Hypodontia Hearing impairment Cleft palate Depressed nasal bridge Dilatation Hypospadias Nail dystrophy Cleft upper lip Reduced number of teeth Hypoplasia of the maxilla Hypopigmented skin patches Cafe-au-lait spot Acute leukemia Microdontia Ectodermal dysplasia Atrial septal defect Upper limb undergrowth Skeletal dysplasia Ventricular septal defect Strabismus Thrombocytopenia Abnormality of the kidney Kyphosis Frontal bossing Renal agenesis Scoliosis Hypertelorism Global developmental delay Hydroureter Hypoplastic toenails Renal hypoplasia/aplasia Abnormality of dental enamel Decreased antibody level in blood Telangiectasia Macrocephaly Brachydactyly Growth delay Recurrent infections Delayed skeletal maturation Chronic lymphatic leukemia Malar flattening Intellectual disability, mild Diarrhea Severe short stature Syndactyly Micrognathia Pain Intrauterine growth retardation Immunodeficiency Finger syndactyly Pectus excavatum Postaxial polydactyly T-cell lymphoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Subcutaneous lipoma Abnormality of the penis Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Short thumb Neoplasm of the central nervous system Bone marrow hypocellularity Generalized hyperkeratosis Follicular thyroid carcinoma Ductal carcinoma in situ Endometrial carcinoma Neoplasm of the thyroid gland Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Merkel cell skin cancer Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Transitional cell carcinoma of the bladder Facial palsy Acrokeratosis Multiple trichilemmomata Lobular carcinoma in situ Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Pancytopenia Fibroma Refractory anemia Macule Ovarian neoplasm Hyperthyroidism Hamartoma Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Renal cell carcinoma Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Increased intracranial pressure Thyroiditis Hashimoto thyroiditis Hamartomatous polyposis Abnormality of the uterus Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Furrowed tongue Scaphocephaly Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Preaxial hand polydactyly Infertility Duplication of thumb phalanx Agenesis of permanent teeth Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Short thorax Aplasia/Hypoplasia of the lungs Thoracic hypoplasia Hypoplastic left heart Dextrocardia Emphysema Cubitus valgus Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the fingernails Postaxial foot polydactyly Hypoplastic iliac wing Short ribs Conical incisor B-cell lymphoma T-cell acute lymphoblastic leukemias Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Abnormal oral frenulum morphology Thoracic dysplasia Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Horizontal ribs Epispadias Abnormal hair quantity Abnormality of female internal genitalia Abnormality of the nail Abnormality of the hair Arthralgia Gingival overgrowth Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Acute lymphoblastic leukemia Lower limb hyperreflexia Foot dorsiflexor weakness Recurrent otitis media Giant platelets Eczema Neutropenia Generalized tonic-clonic seizures Umbilical hernia Drooling Prominent forehead Pes cavus Edema Lower limb hypertonia Median cleft palate Situs inversus totalis Micromelia Heterotopia Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Nail dysplasia Delayed eruption of teeth Short distal phalanx of finger Thin vermilion border Genu valgum Folate deficiency Narrow chest Pectus carinatum Abnormal heart morphology Abnormality of cardiovascular system morphology Talipes equinovarus Abnormality of the skeletal system Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Hemangioma Broad thumb Cranial nerve paralysis Blepharophimosis Thick eyebrow Oral cleft Short nose Dry skin Carious teeth Toe syndactyly Microtia Sparse hair Vesicoureteral reflux Cleft lip Hydronephrosis Photophobia Micropenis Hyperkeratosis Flexion contracture Sensorineural hearing impairment Clinodactyly of the 5th finger Nevus Cardiomyopathy Facial telangiectasia in butterfly midface distribution Hypogonadotrophic hypogonadism Aplasia/Hypoplasia of the skin Keratitis Short 2nd finger Proximal placement of thumb Coarse hair Microcephaly Cutaneous syndactyly Sparse eyelashes Sparse and thin eyebrow Growth hormone deficiency Hypohidrosis Hypoplasia of dental enamel Recurrent urinary tract infections Renal dysplasia Split hand Choanal atresia Sparse scalp hair Fine hair Pneumonia Agenesis of maxillary lateral incisor Hypoplastic nipples Bronchiectasis Protruding ear Erythema Sacral dimple Azoospermia Narrow face Sinusitis Skin rash Abnormality of the face Squamous cell carcinoma Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Otitis media Abnormality of the skin Prominent nose Dolichocephaly Postnatal growth retardation High pitched voice Neoplasm of the gastrointestinal tract Chronic lung disease Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Hypoplastic pelvis Pulmonary fibrosis Chromosome breakage Hypoplasia of the zygomatic bone Recurrent respiratory infections IgG deficiency IgA deficiency Hyperhidrosis Diabetes mellitus Telangiectasia of the skin Aplasia/Hypoplasia of the thumb Ectrodactyly Neoplasm of the skin Downslanted palpebral fissures Headache Adducted thumb Myopathy Broad hallux Hydrocephalus Abnormality of digit Tremor Patellar dislocation Narrow mouth Skeletal muscle atrophy Myopia Motor delay Delayed speech and language development High palate Cognitive impairment Low-set ears Cataract Autism Hypothyroidism Lymphoproliferative disorder Macroglossia Lymphopenia Gynecomastia Exotropia Chronic diarrhea Subcutaneous nodule Ichthyosis Intention tremor Overgrowth Abnormal cerebellum morphology Proximal muscle weakness Palmoplantar keratoderma Polymicrogyria Joint hypermobility Nausea and vomiting Papule Osteoarthritis Intellectual disability, moderate Carcinoma Muscle weakness Ataxia External ear malformation Sparse axillary hair Aplasia/Hypoplasia of the nipples Slow-growing hair Entropion Lacrimation abnormality Anterior hypopituitarism Hypoplasia of the thymus Sparse pubic hair Dysuria Generalized hypopigmentation Inflammatory abnormality of the eye Corneal erosion Fair hair Taurodontia Blue irides Depressed nasal tip Split foot Xerostomia Blepharitis Bladder diverticulum Central diabetes insipidus Generalized hypotonia Megacystis Seizures Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Urethral atresia Selective tooth agenesis Dacryocystitis Ureterocele Abnormality of the middle ear Nail pits Abnormality of the nasopharynx Duplicated collecting system Thin nail Urethral stenosis Non-Hodgkin lymphoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Primary amenorrhea, related diseases and genetic alterations Macrocephaly and Blindness, related diseases and genetic alterations