Abnormality of the skeletal system, and Lymphedema

Diseases related with Abnormality of the skeletal system and Lymphedema

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Lymphedema that can help you solving undiagnosed cases.


Top matches:

Low match BURULI ULCER, SUSCEPTIBILITY TO


Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Low match LYMPHEDEMA, HEREDITARY, IC; LMPH1C


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).For a discussion of genetic heterogeneity of hereditary lymphedema, see LMPH1A (OMIM ).

Related symptoms:

  • Nail dysplasia
  • Lymphedema
  • Recurrent skin infections
  • Cellulitis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IC; LMPH1C

Low match ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME


This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

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Other less relevant matches:

Low match LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME


Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Low match X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY


IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Low match LYMPHEDEMA, HEREDITARY, ID; LMPH1D


Related symptoms:

  • Hyperkeratosis
  • Lymphedema
  • Cellulitis
  • Hydrocele testis
  • Prominent superficial veins


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, ID; LMPH1D

Low match HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD


HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Related symptoms:

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


SOURCES: OMIM MENDELIAN

More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3


Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Low match FOLLICULAR LYMPHOMA


Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.

FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOLLICULAR LYMPHOMA

Low match LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE


Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Lymphedema

Symptoms // Phenotype % cases
Edema Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Rare - less than 30% cases
Hypertelorism Rare - less than 30% cases
Pericardial effusion Rare - less than 30% cases
Facial edema Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Lymphedema. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Atrial septal defect Osteopetrosis Recurrent infections Immunodeficiency Fever Cellulitis Skin nodule Seizures Intellectual disability Abnormality of the peritoneum Generalized hypotonia Mediastinal lymphadenopathy Pleural effusion Night sweats Chronic lymphatic leukemia B-cell lymphoma Glucose intolerance Growth delay Meningitis Insulin resistance Lymphoma Neutropenia Nausea Microcephaly Cerebellar atrophy Nystagmus Intellectual disability, profound Thick cerebral cortex Type I lissencephaly Cavum septum pellucidum Colpocephaly Severe postnatal growth retardation Prominent occiput Lissencephaly Pachygyria Sloping forehead Hyperreflexia Generalized-onset seizure Prominent nasal bridge Postnatal growth retardation Agenesis of corpus callosum Cerebellar hypoplasia Hypertonia Leukemia Hypoplasia of the corpus callosum Myopia Lymphadenopathy Protein-losing enteropathy Respiratory tract infection Conical tooth Hernia Respiratory distress Anemia Toenail dysplasia Prominent superficial veins Hydrocele testis Hyperkeratosis Hypohidrotic ectodermal dysplasia Recurrent bacterial infections Congenital diaphragmatic hernia Delayed eruption of teeth Posterior choanal atresia Hypoplastic nipples Choanal atresia Pectus excavatum High palate Anhidrotic ectodermal dysplasia Recurrent skin infections Ascites Hydrops fetalis Weight loss Hepatosplenomegaly Splenomegaly Diarrhea Fatigue Neoplasm Nail dysplasia Abnormal intestine morphology Flat face Synophrys Polyhydramnios Cystic hygroma Upslanted palpebral fissure Abnormal facial shape Strabismus Global developmental delay Peripheral edema Pulmonary edema Nonimmune hydrops fetalis Varicose veins Bitemporal hollowing



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