Edema, and Hernia

Diseases related with Edema and Hernia

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

Top matches:

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

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

Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Related symptoms:

  • Pain
  • Diarrhea
  • Hernia
  • Abdominal pain
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

Other less relevant matches:

Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Hernia
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

Top 5 symptoms//phenotypes associated to Edema and Hernia

Symptoms // Phenotype % cases
Hydrops fetalis Common - Between 50% and 80% cases
Cystic hygroma Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Short nose Long philtrum Abnormality of cardiovascular system morphology Anteverted nares Abnormal enchondral ossification Umbilical hernia Narrow chest Micromelia Flat face Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Micrognathia Short thorax Inguinal hernia Lethal skeletal dysplasia Femoral hernia Abdominal distention Severe short stature

Rare Symptoms - Less than 30% cases

Atrial septal defect Esophagitis Ascites Short foot Malar flattening Lymphedema Abnormality of esophagus physiology Abnormality of the mouth Poor appetite Parakeratosis Abnormality of the mediastinum Hiatus hernia Follicular hyperkeratosis Oral leukoplakia Diffuse palmoplantar hyperkeratosis Esophageal carcinoma Esophageal neoplasm Stomach cancer Esophageal stricture Plantar hyperkeratosis Clubbing of toes Hypergranulosis Low-set ears Abnormal large intestine morphology Multiple rib fractures Enlarged joints Postaxial hand polydactyly Disproportionate short-limb short stature Thoracic hypoplasia Short palm Recurrent fractures Respiratory insufficiency Molar tooth sign on MRI Skeletal dysplasia Short ribs Hypoplastic ilia Breech presentation Neonatal short-limb short stature Abnormality of bone mineral density Multiple epiphyseal dysplasia Epiphyseal dysplasia Esophageal leukoplakia Clinodactyly Hypertelorism Abnormal facial shape Oral-pharyngeal dysphagia Motor delay Obesity Pectus excavatum Agenesis of corpus callosum Joint dislocation Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Squamous cell carcinoma Neoplasm Poor suck Metabolic acidosis Cyanosis Pulmonic stenosis Abnormal cardiac septum morphology Hydronephrosis Ventricular septal defect Vitamin B12 deficiency Volvulus Inflammation of the large intestine Intestinal obstruction Chronic diarrhea Dehydration Irritability Mitral regurgitation Acidosis Abdominal pain Diarrhea Pain Peripheral edema Facial edema Pulmonary edema Nonimmune hydrops fetalis Varicose veins Pericardial effusion Congenital diaphragmatic hernia Respiratory distress Mitral valve prolapse Spontaneous abortion Palmoplantar hyperkeratosis Dysphagia Thickened skin Epidermal acanthosis Gastrointestinal hemorrhage Ectodermal dysplasia Postural instability Palmoplantar keratoderma Nausea and vomiting Carcinoma Gastroesophageal reflux Weight loss Hyperkeratosis Hepatomegaly Patent foramen ovale Anemia Disproportionate short stature Abnormality of the ribs Talipes equinovarus Urethral diverticulum Tricuspid atresia Arteria lusoria Tricuspid valve prolapse Pulmonary artery atresia Mitral stenosis Hydroureter Tricuspid regurgitation Absent or minimally ossified vertebral bodies


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