Edema, and Pectus excavatum

Diseases related with Edema and Pectus excavatum

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

Top matches:

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA 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

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Other less relevant matches:

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

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

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

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

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Top 5 symptoms//phenotypes associated to Edema and Pectus excavatum

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphedema Epicanthus Osteoporosis Generalized hypotonia Flexion contracture Cleft palate Seizures Abnormality of epiphysis morphology Short stature Large fontanelles Respiratory insufficiency Inguinal hernia Intellectual disability Frontal bossing Low-set ears

Rare Symptoms - Less than 30% cases

Arthrogryposis multiplex congenita Chylothorax Myalgia Neonatal hypotonia Glaucoma Stroke Hernia Myopia Sensorineural hearing impairment Intestinal lymphangiectasia Hydrocele testis Joint hypermobility Webbed neck Gastroesophageal reflux Splenomegaly Aspiration Fever Cryptorchidism Downslanted palpebral fissures Hearing impairment Anteverted nares Arachnodactyly Retinal detachment Respiratory tract infection Myopathy Hyperlordosis Proximal muscle weakness Breech presentation Rigidity Respiratory failure Pes cavus Recurrent respiratory infections Hypertonia Limb muscle weakness Mitral valve prolapse Myopathic facies Abnormality of the skeletal system Dysphagia Dilatation Muscle weakness Failure to thrive Kyphoscoliosis Blue sclerae Myotonia Global developmental delay Decreased fetal movement Abnormal heart morphology Short neck Agenesis of corpus callosum Delayed skeletal maturation Hip dislocation Genu valgum Pericardial effusion Disproportionate tall stature Malar flattening Hyperhidrosis Limitation of joint mobility Macrocephaly Patent ductus arteriosus Abnormal facial shape Ptosis Motor delay Exstrophy Bilateral cleft lip Depressed nasal bridge Ambiguous genitalia Long philtrum Congenital diaphragmatic hernia Muscular hypotonia Recurrent urinary tract infections Abnormality of the voice Increased number of teeth Short nose Prominent metopic ridge Double outlet right ventricle Aspiration pneumonia Osteoma Bilateral cleft lip and palate Widow's peak Hepatomegaly Pulmonary artery atresia Volvulus Abnormality of the pharynx Right aortic arch Intestinal malrotation Abnormality of the nasopharynx Bladder exstrophy Posterior pharyngeal cleft Recurrent aspiration pneumonia Brachydactyly Long clavicles Hypodontia Pulmonary embolism Homocystinuria Cerebral edema Precocious atherosclerosis Generalized osteoporosis Peripheral arterial stenosis Transient ischemic attack Thromboembolism Personality disorder Cutis marmorata Obsessive-compulsive behavior Ectopia lentis Brittle hair Schizophrenia Atherosclerosis Biconcave vertebral bodies Hypermethioninemia Oral cleft Posteriorly rotated ears Cleft upper lip Anal atresia Cleft lip Telecanthus Thin upper lip vermilion Prominent forehead Pneumonia Hypoplastic nipples Hypospadias Abnormality of cardiovascular system morphology Syndactyly Choanal atresia Ventricular septal defect Wide nasal bridge Smooth philtrum Joint stiffness Severe short stature Metabolic acidosis Tachypnea Shock Lumbar hyperlordosis Hypotension Abnormal bleeding Muscle cramps Tachycardia Deep philtrum Lactic acidosis Muscular dystrophy Acidosis Elevated serum creatine phosphokinase Arrhythmia Midface retrusion Renal insufficiency Ventricular arrhythmia Ventricular fibrillation Strabismus Low hanging columella Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Hyperphosphatemia Thoracic kyphosis Abnormality of the coagulation cascade Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Kyphosis Posterior rib cupping Skeletal dysplasia Tapered finger Recurrent pneumonia Wide anterior fontanel Rhizomelia Broad thumb Abnormality of the metaphysis Limb undergrowth Short metacarpal Short foot Short long bone Small hand Short palm Micromelia Narrow chest Platyspondyly Wide mouth Posterior choanal atresia Disproportionate short-limb short stature Relative macrocephaly Severe platyspondyly Renal phosphate wasting Squared iliac bones Abnormally ossified vertebrae Hypoplastic pubic bone Anterior rib cupping Vertebral hypoplasia Hypoplastic vertebral bodies Hypoplastic ischia Metaphyseal cupping Prominent supraorbital ridges Flat acetabular roof Delayed epiphyseal ossification Bell-shaped thorax Protuberant abdomen Hypophosphatemia Flat occiput Metaphyseal irregularity Pancreatitis Depressivity Tall stature Pes planus Joint hyperflexibility Pulmonic stenosis Camptodactyly Erythema Skin rash Conductive hearing impairment Umbilical hernia Arthralgia Visual loss Thickened skin Abnormality of the dentition Gait disturbance Wormian bones Palmoplantar hyperkeratosis Arthritis Bruising susceptibility Pulmonary lymphangiectasia Corneal dystrophy Soft skin Megalocornea Keratoconus Hallux valgus Increased susceptibility to fractures Hyperextensible skin Cutis laxa Coarse facial features Congenital hip dislocation High myopia Osteopenia Hip dysplasia Microcornea Recurrent fractures Genital edema Prune belly Corneal erosion Flushing Atrial septal defect Growth hormone excess Joint swelling Anemia Micrognathia Heart block Osteolytic defects of the phalanges of the hand Thickened calvaria Clubbing of fingers Seborrheic dermatitis Subperiosteal bone formation Periostosis Eczematoid dermatitis Hip pain Arthropathy Hypothyroidism Facial edema Nonimmune hydrops fetalis Redundant skin Stomatocytosis Patent foramen ovale Periorbital edema Spherocytosis Generalized edema Varicose veins Hemolytic anemia Clubbing Deep venous thrombosis Cellulitis Cupped ear Hydrops fetalis Acne Ascites Sclerocornea Corneal scarring Dental crowding Clinodactyly Thin ribs Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Obesity Mask-like facies Akinesia EMG: neuropathic changes Congenital contracture EMG: myopathic abnormalities Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Knee flexion contracture Foot dorsiflexor weakness Hypoventilation Facial diplegia Joint contracture of the hand Late-onset distal muscle weakness Myocardial infarction Hypopigmentation of the skin Hepatic steatosis Aggressive behavior Wide cranial sutures Behavioral abnormality Percussion myotonia Fetal akinesia sequence Fetal distress Diaphragmatic paralysis Neck flexor weakness Slender build Type 1 muscle fiber predominance Nemaline bodies Narrow face Frequent falls Shoulder dislocation Neoplasm Areflexia Congestive heart failure Enlarged joints Growth delay Cardiomyopathy Respiratory distress Pain Multiple epiphyseal dysplasia Hyperreflexia Feeding difficulties Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Hyporeflexia Molar tooth sign on MRI Waddling gait Paralysis Generalized muscle weakness Pulmonary hypoplasia Falls Finger syndactyly Dilated cardiomyopathy Cough Brain atrophy Epiphyseal dysplasia Feeding difficulties in infancy Apnea Facial palsy Hypertrophic cardiomyopathy Osteoarthritis Joint dislocation Retrognathia Mixed respiratory and metabolic acidosis


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