Edema, and Inguinal hernia

Diseases related with Edema and Inguinal hernia

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

Top 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

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

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

Other less relevant matches:

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

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, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), 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. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Top 5 symptoms//phenotypes associated to Edema and Inguinal hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Hydrops fetalis Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Malar flattening Polyhydramnios Cleft palate Long philtrum Hypertelorism Scoliosis Corneal opacity Cutis laxa High palate Macrocephaly Flat face Joint laxity

Rare Symptoms - Less than 30% cases

Joint hyperflexibility Short ribs Anteverted nares Respiratory insufficiency Short nose Abnormality of cardiovascular system morphology Severe short stature Mitral valve prolapse Narrow chest Micromelia Midface retrusion Short thorax Multiple epiphyseal dysplasia Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Dilatation Soft skin Abnormal enchondral ossification Agenesis of permanent teeth Pulmonic stenosis Respiratory failure Depressed nasal bridge Ascites Hyperextensible skin Mitral regurgitation Abnormality of the dentition Patent foramen ovale Arachnodactyly Joint hypermobility Bruising susceptibility Low-set ears Recurrent infections Mitral stenosis Gastroesophageal reflux Epiphyseal dysplasia Pectus excavatum Growth delay Generalized hypotonia Pes planus Hydronephrosis Hearing impairment Hip dislocation Blue sclerae Joint dislocation Lymphedema Osteoporosis Osteoarthritis Abnormality of epiphysis morphology Bladder diverticulum Prematurely aged appearance Tracheomalacia Pulmonary artery stenosis Premature skin wrinkling Peripheral pulmonary artery stenosis Myopia Periorbital edema Rectal prolapse Emphysema Bronchomalacia Sensorineural hearing impairment Visual loss Gait disturbance Glaucoma Conductive hearing impairment Decreased liver function Pyloric stenosis Wide nasal bridge Tachypnea Abnormal lung morphology Hypoalbuminemia Portal hypertension Cholestasis Rickets Interstitial pulmonary abnormality Bile duct proliferation Vitamin D deficiency Anasarca Vitamin A deficiency Small scrotum Pancytopenia Neonatal hypotonia Laryngomalacia Respiratory distress Macrotia Hypocalcemia Retrognathia Sparse hair Pulmonary hypoplasia Convex nasal ridge Sloping forehead Congenital diaphragmatic hernia Recurrent urinary tract infections Hepatic steatosis Large fontanelles Microretrognathia Sandal gap Oligohydramnios Ventricular septal defect Myalgia Premature loss of teeth Gingival overgrowth Hoarse voice Vasculitis Osteolysis Dermal atrophy Urticaria Hypermelanotic macule Atrophic scars Long nose Skin vesicle Fragile skin Abnormal joint morphology Striae distensae Gingival bleeding Thin skin Subarachnoid hemorrhage Gingivitis Periodontitis Generalized joint laxity Chronic pain Premature loss of primary teeth Poor wound healing Cigarette-paper scars Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Tall stature Fine hair Camptodactyly Shoulder dislocation Retinal detachment Recurrent fractures Microcornea Hip dysplasia High myopia Congenital hip dislocation Corneal dystrophy Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Sclerocornea Corneal erosion Corneal scarring Flat cornea Microdontia Abnormality of eye movement Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Short stature Neoplasm Pain Flexion contracture Arthralgia Arthritis Erythema Scarring Autoimmunity Carious teeth Cirrhosis Lacrimation abnormality Cough Abnormality of the skeletal system Coarse facial features Joint stiffness Hepatitis Metatarsus adductus Abnormality of the hip bone Epiphyseal stippling Arteriovenous malformation Abnormality of the pleura Enlarged thorax Diaphyseal thickening Mucopolysacchariduria Anterior beaking of lumbar vertebrae Anterior beaking of lower thoracic vertebrae Talipes equinovarus Splenomegaly Proptosis Short foot Premature birth Limb undergrowth Abnormality of the ribs Short chin Hypoplasia of the radius Growth abnormality Thoracic hypoplasia Disproportionate short stature Thin ribs Protruding tongue Short clavicles Recurrent respiratory infections Muscular hypotonia Upper limb undergrowth Obesity Atrial septal defect Abnormal cardiac septum morphology Cyanosis Spontaneous abortion Tricuspid regurgitation Hydroureter Pulmonary artery atresia Tricuspid valve prolapse Arteria lusoria Tricuspid atresia Urethral diverticulum Abnormal facial shape Motor delay Clinodactyly Intellectual disability Agenesis of corpus callosum Pectus carinatum Finger syndactyly Genu valgum Brain atrophy Molar tooth sign on MRI Enlarged joints Skeletal dysplasia Abdominal distention Hypoplastic ilia Breech presentation Neonatal short-limb short stature Abnormality of bone mineral density Absent or minimally ossified vertebral bodies Protuberant abdomen Barrel-shaped chest Abnormality of the liver Absent paranasal sinuses Reduced number of teeth Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Hypoplastic labia majora Hyposmia Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Seizures Scrotal hypoplasia Global developmental delay Failure to thrive Anemia Feeding difficulties Hypertension Intrauterine growth retardation Vomiting Cerebral atrophy Osteopenia Hypoglycemia Deeply set eye Elevated hepatic transaminase Abnormality of the eye Anosmia Hypogonadotrophic hypogonadism Hypoplastic scapulae Visual impairment Decreased skull ossification Disproportionate short-trunk short stature Lethal skeletal dysplasia Femoral hernia Hypoplastic ischia Broad clavicles Beaded ribs Unossified vertebral bodies Abnormal foot bone ossification Abnormal hand bone ossification Abnormality of the femoral metaphysis Cataract Cryptorchidism Microphthalmia Encephalocele Hypospadias Hypogonadism Micropenis Cleft lip Coloboma Muscular dystrophy Synophrys Delayed puberty Iris coloboma Hypoplasia of the maxilla Broad nasal tip Dental malocclusion Primary amenorrhea Choanal atresia Alveolar bone loss around teeth


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brain atrophy, related diseases and genetic alterations Motor delay and Lissencephaly, related diseases and genetic alterations Hyperreflexia and Psychosis, related diseases and genetic alterations Ptosis and Hypotension, related diseases and genetic alterations Anemia and Hypoplasia of the corpus callosum, related diseases and genetic alterations Ataxia and Peripheral neuropathy, related diseases and genetic alterations