Scoliosis, and Lymphoma

Diseases related with Scoliosis and Lymphoma

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


Top matches:

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


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 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

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

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A


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

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Other less relevant matches:

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


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

Low match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


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

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


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

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 BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Scoliosis and Lymphoma

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Leukemia Recurrent fractures Eczema Skin ulcer Immunodeficiency Recurrent respiratory infections Skeletal muscle atrophy Recurrent infections Hyporeflexia

Rare Symptoms - Less than 30% cases


Axonal loss Prominent forehead Hyperhidrosis Wide nasal bridge Hodgkin lymphoma Cerebellar hypoplasia Osteopenia Muscular hypotonia Strabismus Generalized hypotonia Neurofibromas Abnormality of the nervous system Myoclonus Segmental peripheral demyelination/remyelination Cataract Pruritus Deeply set eye Anemia Wide nose Osteoporosis Frontal bossing Atopic dermatitis Recurrent skin infections Lymphopenia Inflammatory abnormality of the skin Asthma Abnormality of the skeletal system High palate Ataxia Craniosynostosis Seizures Intellectual disability Increased IgE level Skin vesicle Chronic otitis media Eosinophilia Joint hyperflexibility Hammertoe Cough Skin rash Decreased motor nerve conduction velocity Erythema Delayed gross motor development Hyperextensible skin Pes cavus Areflexia Peripheral neuropathy Motor delay Periodontitis Premature loss of teeth Joint hypermobility Polyneuropathy Fever T-cell lymphoma Osteoarthritis Arthralgia Pectus excavatum Brachydactyly Sensory neuropathy Pain Foot dorsiflexor weakness Peripheral demyelination Capillary hemangioma Telangiectasia Lymphedema Narrow palate Cachexia Intracranial hemorrhage Aortic aneurysm Cutis marmorata Multiple lipomas Multiple cafe-au-lait spots Hamartoma Irregular hyperpigmentation Hashimoto thyroiditis Lipoma Meningioma Subcutaneous nodule Subcutaneous hemorrhage Growth delay Microcephaly Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Hamartomatous polyposis Arteriovenous malformation Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Tall stature Nevus Broad thumb Recurrent candida infections Hemihypertrophy Verrucae Recurrent sinopulmonary infections Red hair Decrease in T cell count Persistence of primary teeth B lymphocytopenia Fractures of the long bones Recurrent fungal infections Eczematoid dermatitis Recurrent bacterial skin infections Onychomycosis Severe viral infections Recurrent Staphylococcus aureus infections Opportunistic infection Intrauterine growth retardation Short nose Dolichocephaly Neurological speech impairment Hypoglycemia Macrotia Delayed skeletal maturation Long philtrum Myopathy Lung abscess Anteverted nares Macrocephaly Micrognathia Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Hepatomegaly Progressive distal muscular atrophy Recurrent bronchitis Cellular immunodeficiency Aplasia/Hypoplasia of the skin Telangiectasia of the skin Aseptic necrosis Abnormal eyelash morphology Blepharitis Neoplasm of the pancreas Abnormal eyebrow morphology Taurodontia White hair Abnormality of the testis Oral leukoplakia Aplastic anemia Ridged nail Abnormality of female internal genitalia Testicular atrophy Hypermelanotic macule Nail pits Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Rough bone trabeculation Abnormality of the pharynx Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Macule Abnormality of coagulation Splenomegaly Nail dysplasia Thrombocytopenia Alopecia Diabetes mellitus Hyperkeratosis Sparse hair Nail dystrophy Carious teeth Malabsorption Abnormality of skin pigmentation Cirrhosis Hepatic failure Palmoplantar keratoderma Hypodontia Hypoplasia of the maxilla Abnormal blistering of the skin Premature graying of hair Neoplasm of the skin Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Hypopigmented skin patches Abnormal intestine morphology Specific learning disability Abnormality of the fingernails Bone marrow hypocellularity Hepatic fibrosis Hyperpigmentation of the skin Pancytopenia Cerebral calcification Chronic mucocutaneous candidiasis Bronchitis Recurrent sinusitis Abnormality of lateral ventricle High forehead Telecanthus Congenital cataract Pulmonic stenosis Growth hormone deficiency Narrow forehead Optic nerve hypoplasia Absent eyebrow Abnormality of the sternum Acute lymphoblastic leukemia Heat intolerance B-cell lymphoma Abnormal aortic valve morphology Multiple lentigines Abnormal ventricular septum morphology Distal muscle weakness Cleft palate Kyphoscoliosis Hypertrophic nerve changes Dilatation Ulnar claw Axonal regeneration Hypopnea Gingival recession Delayed myelination Demyelinating peripheral neuropathy Gingival bleeding Fragile skin Papule Atrophic scars Apnea Hypoplasia of the corpus callosum Delayed eruption of teeth Hoarse voice Fatigue Respiratory insufficiency Abnormal nervous system electrophysiology Weight loss Myelin outfoldings Paralysis Abnormality of movement Confusion Paresthesia Inability to walk Muscle cramps Generalized muscle weakness Hypotelorism Tetraparesis Cranial nerve paralysis Myopia Myelin tomacula Limb muscle weakness Abnormality of the foot Distal amyotrophy Nystagmus Distal sensory impairment Brachial plexus neuropathy Vocal cord paresis Back pain Abnormal myelination Low back pain Constrictive median neuropathy Vocal cord paralysis Axonal degeneration Abnormality of the voice Nephroblastoma Bruising susceptibility Cold-induced muscle cramps Steppage gait Postaxial polydactyly Vasculitis Narrow palpebral fissure Leukopenia Glomerulonephritis Combined immunodeficiency Polydactyly Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Hypertelorism Dysphagia Progressive muscle weakness Otitis media Squamous cell carcinoma Urticaria Recurrent bacterial infections Hemivertebrae Sinusitis Thick lower lip vermilion Prominent nose Constipation Decreased nerve conduction velocity Facial asymmetry Coarse facial features Mandibular prognathia Sleep apnea Pneumonia Bronchiectasis Sensory impairment Abnormality of the face Decreased number of peripheral myelinated nerve fibers Onion bulb formation Abnormality of the hair Irritability Umbilical hernia Osteomyelitis Inguinal hernia Cellulitis Gingivitis Dystrophic fingernails Atelectasis Split hand Paronychia Generalized abnormality of skin Short 2nd finger Chronic lymphatic leukemia Adducted thumb Broad hallux Neutropenia Hemolytic anemia Mild short stature Respiratory tract infection Conductive hearing impairment Gastroesophageal reflux Abnormality of digit Failure to thrive Dysarthria Patellar dislocation Lymphoproliferative disorder Cognitive impairment Abnormal facial shape Sensorineural hearing impairment Absent lacrimal punctum



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