Edema, and Congenital diaphragmatic hernia

Diseases related with Edema and Congenital diaphragmatic hernia

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

Top matches:

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

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Other less relevant matches:

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

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

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Edema and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Wide nasal bridge Epicanthus Abnormal facial shape Generalized hypotonia Cryptorchidism Micropenis Respiratory distress Growth delay Hypospadias Global developmental delay Depressed nasal bridge Short neck Ambiguous genitalia Polyhydramnios Flexion contracture Inguinal hernia Agenesis of corpus callosum Patent foramen ovale Scoliosis Talipes Pectus carinatum Abnormality of the kidney Hydrops fetalis Telecanthus Abnormality of the pinna Respiratory insufficiency Fever Pulmonary hypoplasia Lymphedema Ventricular septal defect Hearing impairment Anteverted nares Cleft lip Abnormal heart morphology Oral cleft Prominent forehead

Rare Symptoms - Less than 30% cases

Intrauterine growth retardation Scrotal hypoplasia Thoracic hypoplasia Anal atresia Upper limb undergrowth Muscular hypotonia of the trunk Joint dislocation Hydronephrosis Elbow flexion contracture Sandal gap Smooth philtrum Posteriorly rotated ears Cleft upper lip Patent ductus arteriosus Frontal bossing Downslanted palpebral fissures High palate Bilateral cleft lip Bilateral cleft lip and palate Volvulus Cutis laxa Microretrognathia Meningocele Recurrent urinary tract infections Joint laxity Microtia Umbilical hernia Retrognathia Macrotia Gastroesophageal reflux Midface retrusion Short stature Ptosis Congestive heart failure Preaxial polydactyly Large fontanelles Radioulnar synostosis Lumbar scoliosis Atrial septal defect Ascites Cystic hygroma Cardiomegaly Hypoplasia of penis Neoplasm Renal insufficiency High, narrow palate Flat face Abdominal distention Short nose Nephroblastoma Muscular hypotonia Seizures Hip dislocation Micromelia Abnormality of the skeletal system Narrow chest Hydrocephalus Polydactyly Talipes equinovarus Renal hamartoma Hypoplastic pelvis Broad ribs Renal neoplasm Calvarial skull defect Thick upper lip vermilion Polysplenia Single umbilical artery Barrel-shaped chest Renal cyst Radial bowing Nail dysplasia Abnormality of tibia morphology Short foot Aplasia of the uterus Capillary hemangioma Oligodactyly Enlarged kidney Long face Hand oligodactyly Fibular aplasia Phocomelia Hamartoma Humeroradial synostosis Neurodevelopmental delay Global brain atrophy Large for gestational age Hyperinsulinemia Skeletal dysplasia Broad neck Prominent xiphoid process Hypoxemia Long upper lip Naevus flammeus of the eyelid Small nail Split hand Encephalocele Bowing of the long bones Abnormality of pancreas morphology Nephroblastomatosis Hemivertebrae Thymus hyperplasia Narrow palate Fetal ascites Hypoplasia of the radius Abnormality of upper lip Nephrogenic rest Ileal atresia Hypoplasia of the abdominal wall musculature Interrupted aortic arch Thickened helices Hypoplastic nipples Visceromegaly Ectrodactyly Disproportionate short stature Femoral bowing Protruding ear Unilateral renal agenesis Intestinal atresia Broad alveolar ridges Anonychia Pancreatic islet-cell hyperplasia Distal ileal atresia Tracheoesophageal fistula Femoral hernia Anemia Foot oligodactyly Amblyopia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Hyperextensible skin Bicuspid aortic valve Accelerated skeletal maturation Meningitis Rhizomelia Left ventricular hypertrophy Restrictive ventilatory defect Abnormal lung morphology Mitral regurgitation Blue sclerae Low posterior hairline Mitral valve prolapse Microdontia Webbed neck Esotropia Short metacarpal Congenital glaucoma Narrow nasal bridge Thick eyebrow Multiple joint dislocation Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Talipes equinovalgus Aortic root aneurysm Knee dislocation Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Recurrent fractures Arachnodactyly Prominent sternum Occipital meningocele Aplasia/Hypoplasia involving the pelvis Growth abnormality Aplasia/Hypoplasia of the sacrum Rectal fistula Acrania Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the toes Carpal bone aplasia Aplasia/Hypoplasia of the phalanges of the hand Aplasia/Hypoplasia of the pubic bone Hypoplastic sacrum Congenital pseudoarthrosis of the clavicle Decreased calvarial ossification Aplasia/hypoplasia of the femur Broad clavicles Aplasia/Hypoplasia involving the metacarpal bones Elbow ankylosis Aplasia of the ulna Long ear Pilonidal sinus Aplastic pubic bones Genu valgum Cerebral cortical atrophy Abnormality of the foot Pulmonic stenosis Hypermetropia Abnormal cardiac septum morphology Pes planus Osteopenia Kyphoscoliosis Proptosis Narrow mouth Glaucoma Anteriorly displaced genitalia Brachycephaly Osteoporosis Delayed skeletal maturation Motor delay Colonic stenosis Lower limb phocomelia Humeroulnar synostosis Aplasia/Hypoplasia of the tarsal bones Aplasia/Hypoplasia involving the carpal bones Polycystic kidney dysplasia Wormian bones Tented upper lip vermilion Short upper lip Vertebral fusion Short finger Akinesia Pterygium Increased susceptibility to fractures Depressed nasal ridge Microcephaly Aplastic clavicle Malignant hyperthermia Retinal coloboma Thoracic dysplasia Anencephaly Molar tooth sign on MRI Short ribs Cerebellar vermis hypoplasia Postaxial polydactyly Thin ribs Fetal akinesia sequence Coloboma Sloping forehead Premature skin wrinkling Pulmonary artery stenosis Tracheomalacia Prematurely aged appearance Emphysema Pyloric stenosis Laryngomalacia Convex nasal ridge Multiple pterygia Sparse hair Respiratory failure Dilatation Malar flattening Long philtrum Abnormal cervical curvature Amyoplasia Hypoplastic heart Polymicrogyria Hyporeflexia Bladder diverticulum Recurrent infections Amenorrhea Nephropathy Stage 5 chronic kidney disease Lethargy Pallor Proteinuria Weight loss Hypertension Primary amenorrhea Nystagmus Peripheral edema Facial edema Pulmonary edema Nonimmune hydrops fetalis Varicose veins Pericardial effusion Nephrotic syndrome Abnormality of the genital system Gonadal tissue inappropriate for external genitalia or chromosomal sex Diffuse mesangial sclerosis Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Uterus didelphys Ambiguous genitalia, female Ambiguous genitalia, male Glomerulosclerosis Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Glomerulonephritis Peripheral pulmonary artery stenosis Periorbital edema Bilateral single transverse palmar creases Broad foot Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Diastasis recti Short 5th finger Irregular vertebral endplates Prominent coccyx Shawl scrotum Facial cleft Supernumerary nipple Bifid scrotum Elbow dislocation Epiphyseal dysplasia Abnormality of the genitourinary system Urethral valve Hepatomegaly Omphalocele Overgrowth Hepatic fibrosis Tall stature Renal dysplasia Open mouth Status epilepticus Lumbar hyperlordosis Abnormality of the cardiovascular system Specific learning disability Macrocephaly Round face Macroglossia Dolichocephaly Hyperlordosis Deeply set eye Hepatosplenomegaly High forehead Cerebral atrophy Spontaneous abortion Renal agenesis Rectal prolapse Intestinal malrotation Hydrocele testis Aspiration pneumonia Double outlet right ventricle Prominent metopic ridge Increased number of teeth Abnormality of the voice Aspiration Hypodontia Pulmonary artery atresia Thin upper lip vermilion Pneumonia Pectus excavatum Abnormality of cardiovascular system morphology Syndactyly Dysphagia Sensorineural hearing impairment Bronchomalacia Widow's peak Abnormality of the pharynx Highly arched eyebrow Depressivity Small hand Blepharophimosis Craniosynostosis Postnatal growth retardation Intellectual disability, moderate Conductive hearing impairment Clinodactyly Cognitive impairment Chylothorax Posterior pharyngeal cleft Osteoma Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Bilateral elbow dislocations


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