Lymphoma, and Kyphoscoliosis

Diseases related with Lymphoma and Kyphoscoliosis

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

Top matches:

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

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

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

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

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

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

Top 5 symptoms//phenotypes associated to Lymphoma and Kyphoscoliosis

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Short stature Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Leukemia Abnormality of the skeletal system Hyporeflexia Chronic otitis media Pruritus Abnormality of the nervous system Osteopenia Eczema Weight loss Generalized hypotonia Anemia Recurrent fractures Intellectual disability Global developmental delay Motor delay Peripheral neuropathy Recurrent infections Back pain Osteoarthritis Brachydactyly Arthralgia

Rare Symptoms - Less than 30% cases

Increased IgE level Tetraparesis Myoclonus Hydrocephalus Respiratory insufficiency Confusion Dilatation Facial asymmetry Paralysis Asthma Otitis media Frontal bossing Tibial bowing Atopic dermatitis Recurrent skin infections T-cell lymphoma Fever Inflammatory abnormality of the skin Joint hypermobility Pulmonic stenosis Hyperextensible skin Overgrowth Erythema Conductive hearing impairment Gastroesophageal reflux Paresthesia Dysarthria Immunodeficiency High palate Macrocephaly Osteoporosis Hypertension Peripheral demyelination Neurofibromas Decreased motor nerve conduction velocity Cough Hammertoe Skin rash Craniosynostosis Sleep apnea Foot dorsiflexor weakness Deeply set eye Prominent forehead Recurrent respiratory infections Joint hyperflexibility Polyneuropathy Sensory neuropathy Abnormality of the dentition Wide nasal bridge Apnea Pes cavus Areflexia Skeletal muscle atrophy Muscle weakness Axonal loss Chronic myelogenous leukemia Delayed speech and language development Skin ulcer Abnormal facial shape Hodgkin lymphoma Segmental peripheral demyelination/remyelination Eosinophilia Hypopnea Strabismus Hypertelorism Seizures Cognitive impairment Mandibular prognathia Pneumonia Cortical myoclonus Constipation Dysphagia Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Coarse facial features Sensorineural hearing impairment Wide nose Prominent nose Thick lower lip vermilion Sinusitis Hemivertebrae Recurrent bacterial infections Urticaria Squamous cell carcinoma Bronchitis Recurrent sinusitis Recurrent bronchitis Chronic mucocutaneous candidiasis Hemihypertrophy Allergic rhinitis Abnormal ventricular septum morphology Severe combined immunodeficiency Abnormality of the hair Delayed eruption of teeth Papule Failure to thrive Abnormality of the face Ataxia Generalized abnormality of skin Respiratory tract infection Verrucae Hemolytic anemia Paronychia Neutropenia Osteomyelitis Skin vesicle Atelectasis Bronchiectasis Dystrophic fingernails Lymphopenia Vasculitis Narrow palpebral fissure Leukopenia Gingivitis Glomerulonephritis Cleft palate Combined immunodeficiency Cellulitis Sensory impairment Severe short stature Recurrent sinopulmonary infections Disproportionate short stature Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Neuroblastoma Myeloid leukemia Upper airway obstruction Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Communicating hydrocephalus Dysuria Short long bone Obstructive lung disease Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Cervical myelopathy Central apnea Central sleep apnea Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Disproportionate short-limb short stature Infantile muscular hypotonia Red hair Recurrent candida infections Hyperreflexia Depressed nasal bridge Flexion contracture Growth delay Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent Staphylococcus aureus infections Malar flattening Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Ventriculomegaly Midface retrusion Acanthosis nigricans Epidermal acanthosis Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Lumbar hyperlordosis Obesity Sleep disturbance Oral cleft Micromelia Scarring Hyperlordosis Cleft lip Rigidity Skeletal dysplasia Multiple lentigines Abnormality of lateral ventricle Generalized muscle weakness Abnormal aortic valve morphology Spina bifida Clitoral hypertrophy Precocious puberty Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Sensorimotor neuropathy Hypophosphatemia Bone pain Cafe-au-lait spot Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Sensory axonal neuropathy Pulmonary fibrosis Gastrointestinal hemorrhage Myocardial fibrosis Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Neoplasm of the endocrine system Freckling Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Specific learning disability Abnormality of skin pigmentation Carcinoid tumor Decreased nerve conduction velocity Myelin outfoldings Hypertrophic nerve changes Ulnar claw Axonal regeneration Demyelinating peripheral neuropathy Onion bulb formation Decreased number of peripheral myelinated nerve fibers Steppage gait Delayed gross motor development Progressive distal muscular atrophy Progressive muscle weakness Split hand Delayed myelination Distal sensory impairment Distal amyotrophy Abnormality of the foot Limb muscle weakness Distal muscle weakness Abnormal nervous system electrophysiology Cold-induced muscle cramps Peripheral axonal neuropathy Hyperactivity Genu valgum Malabsorption Attention deficit hyperactivity disorder Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Autism Glaucoma Abnormal heart morphology Ptosis Visual loss Depressivity Abnormality of cardiovascular system morphology Headache Intellectual disability, mild Behavioral abnormality Blindness Cardiomyopathy Visual impairment Paraganglioma Rhabdomyosarcoma B-cell lymphoma Inability to walk Constrictive median neuropathy Vocal cord paralysis Axonal degeneration Abnormality of the voice Cranial nerve paralysis Hoarse voice Hypotelorism Muscle cramps Abnormality of movement Abnormal myelination Fatigue Gingival recession Periodontitis Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Low back pain Vocal cord paresis Irritability Telecanthus Heat intolerance Acute lymphoblastic leukemia Abnormality of the sternum Absent eyebrow Optic nerve hypoplasia Narrow forehead Growth hormone deficiency Congenital cataract High forehead Myelin tomacula Hyperhidrosis Cerebellar hypoplasia Hypoplasia of the corpus callosum Myopia Cataract Muscular hypotonia Nystagmus Brachial plexus neuropathy Bruising susceptibility Umbilical hernia Nasolacrimal duct obstruction Epigastric pain Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Dural ectasia Neurofibrosarcoma Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Renal phosphate wasting Schwannoma Glioma Neuroma Optic nerve glioma Inguinal hernia Postaxial polydactyly Short 2nd finger Chronic lymphatic leukemia Lymphoproliferative disorder Patellar dislocation Abnormality of digit Broad hallux Mild short stature Adducted thumb Polydactyly Subcutaneous neurofibromas Pectus excavatum Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Lumbar kyphosis in infancy


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