Edema, and Facial asymmetry

Diseases related with Edema and Facial asymmetry

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

Top matches:

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low match CAFFEY DISEASE

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Other less relevant matches:

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

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

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TOWNES-BROCKS SYNDROME 1; TBS1

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Edema and Facial asymmetry

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Microcephaly Strabismus Hearing impairment Pain Hernia Proptosis Polyhydramnios Ptosis Hypertelorism Umbilical hernia High palate Feeding difficulties Depressed nasal bridge Ventriculomegaly Kyphoscoliosis Thick eyebrow Generalized hypotonia Intellectual disability, moderate Short neck Cryptorchidism Telecanthus Broad forehead Broad-based gait Intellectual disability, mild Scoliosis Cognitive impairment Wide nasal bridge Macrocephaly Abnormality of cardiovascular system morphology Hypospadias Recurrent infections Coloboma Lymphedema Short nose Dental malocclusion Abnormality of the skeletal system Low-set ears Ventricular septal defect Gastroesophageal reflux Syndactyly

Rare Symptoms - Less than 30% cases

Neoplasm Splenomegaly Overlapping toe Abnormality of the outer ear Cardiomyopathy Cataract Deeply set eye Cerebral visual impairment Dilatation Vomiting Motor delay Downslanted palpebral fissures Multicystic kidney dysplasia Unsteady gait Dolichocephaly Nonimmune hydrops fetalis Abnormality of the dentition Anxiety Arachnoid cyst High forehead Clinodactyly Abnormality of the pinna Atrial septal defect Polycystic kidney dysplasia Eyelid coloboma Bladder exstrophy Epibulbar dermoid Opacification of the corneal stroma 2-3 toe syndactyly Coarctation of aorta Micrognathia Sensorineural hearing impairment Concave nasal ridge Growth delay Hyperactivity Agenesis of corpus callosum Thoracolumbar scoliosis Anteverted nares Hyporeflexia Brachydactyly Muscular hypotonia Upslanted palpebral fissure Midface retrusion Malar flattening Neonatal hypotonia Absent speech Pointed chin Cellulitis Leukocytosis Pectus carinatum Bifid scrotum Hydrops fetalis Short palm Carious teeth Irritability Pterygium Vesicoureteral reflux Recurrent upper respiratory tract infections Severe short stature Behavioral abnormality Respiratory insufficiency Fever Webbed neck Wide intermamillary distance Thick vermilion border Low-set, posteriorly rotated ears High, narrow palate Abnormality of the vertebral column Constipation Blepharophimosis Hypoplasia of the corpus callosum Pectus excavatum Posteriorly rotated ears Abnormal heart morphology Headache Bifid uvula Abdominal pain Patent ductus arteriosus Nystagmus Flexion contracture Postnatal growth retardation Mandibular prognathia Macrotia Hypertrophic cardiomyopathy Renal dysplasia Wide mouth Cerebellar cortical atrophy Hyperorality Tongue thrusting Fulminant hepatic failure Hypothyroidism Microtia Abnormality of the kidney Hair-pulling Recurrent pyelonephritis Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Anterior beaking of lumbar vertebrae Decreased pulmonary function Hypertension Visual loss Renal insufficiency Polydactyly Toenail dysplasia Aggressive behavior Episodic vomiting Full cheeks Long philtrum Nephrolithiasis Immunodeficiency Obesity Clinodactyly of the 5th finger Autism Long eyelashes Abnormality of the genital system Hepatitis Renal cyst Tall stature Sleep disturbance Bulbous nose Hepatic failure Nausea and vomiting Hypermetropia EEG abnormality Hydronephrosis Autistic behavior Protruding ear Chronic diarrhea Dental crowding Periorbital fullness Large hands Delayed CNS myelination Heat intolerance Bruxism Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Weak cry Hypoplastic toenails Prominent supraorbital ridges Diarrhea Delayed speech and language development Recurrent skin infections Gait disturbance Poor head control Increased intracranial pressure Sacral dimple Accelerated skeletal maturation Short chin Small for gestational age Hypohidrosis Radial club hand Toe syndactyly Elevated alkaline phosphatase Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Poor suck Abnormality of blood and blood-forming tissues Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Amenorrhea Neuroblastoma Gonadal dysgenesis Abdominal distention Amegakaryocytic thrombocytopenia Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Hypoplastic aortic arch Arnold-Chiari type I malformation Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Drusen Malignant hyperthermia Abnormal bleeding Triangular face Anal atresia Triphalangeal thumb Duane anomaly Rectovaginal fistula Duodenal atresia Truncus arteriosus Anal stenosis Preauricular pit Tracheoesophageal fistula Preaxial hand polydactyly Overfolded helix Chorioretinal coloboma Preaxial polydactyly Partial duplication of thumb phalanx Redundant skin Short metatarsal Microretrognathia Preauricular skin tag Abnormal vertebral morphology Short thumb Broad thumb Renal hypoplasia Bilateral sensorineural hearing impairment Tetralogy of Fallot Stage 5 chronic kidney disease Clinodactyly of the 5th toe Pseudoarthrosis Bruising susceptibility Satyr ear Pulmonic stenosis Hypotrichosis Leukemia Abnormal cardiac septum morphology Sparse hair Hypogonadism Rod-cone dystrophy Thrombocytopenia Congestive heart failure Myopia Pseudoepiphyses of second metacarpal Aplasia/Hypoplasia of the 3rd toe 3-4 finger syndactyly 2-4 finger syndactyly Stahl ear Prominent scrotal raphe Pulmonary valve atresia Bilateral triphalangeal thumbs Rectoperineal fistula Metatarsal synostosis Overfolding of the superior helices 3-4 toe syndactyly Urethral valve Bifid uterus Dermatan sulfate excretion in urine Kyphosis Snoring Facial hypotonia Hyperpigmentation of the skin Aganglionic megacolon Short palpebral fissure Abnormality of the cardiovascular system Nevus Astigmatism Stroke Alopecia Failure to thrive Neurodevelopmental delay Multiple lipomas Myopathic facies Bilateral ptosis Precocious puberty Deep philtrum CNS hypomyelination Cafe-au-lait spot Open mouth Epileptic encephalopathy Esotropia Delayed myelination Abnormality of the ear Aplasia/Hypoplasia of the skin Prominent forehead Abnormality of the bladder Glaucoma Brachycephaly Ossifying fibroma Anisometropia Gastrointestinal atresia Abnormal conjunctiva morphology Exstrophy Laryngeal hypoplasia Epidermal nevus Parietal bossing Absent septum pellucidum Abnormality of the penis Fibroma Epispadias Abnormality of nervous system morphology Lower limb asymmetry Transient ischemic attack Abnormality of the ureter Aplasia cutis congenita Generalized hyperpigmentation Hamartoma Apnea Myoclonus Thin upper lip vermilion Finger syndactyly Axonal degeneration Scapular winging Narrow palpebral fissure Narrow face Hoarse voice Hypotelorism Sensory impairment Postural instability Paresthesia Paralysis Chronic pain Myalgia Rigidity Narrow mouth Hyperhidrosis Depressivity Respiratory distress Fatigue Skeletal muscle atrophy Peripheral neuropathy Cleft palate Facial paralysis Dysesthesia Encephalopathy Restlessness Visual impairment Cortical irregularity Periosteal thickening of long tubular bones Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thoracic dysplasia Thrombocytosis Tibial bowing Weak voice Increased antibody level in blood Bowing of the legs Hyperostosis Disproportionate short-limb short stature Feeding difficulties in infancy Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Micropenis Craniosynostosis Heparan sulfate excretion in urine Platyspondyly Hip dysplasia Macroglossia Tetraplegia Ascites Neurodegeneration Hirsutism Vertigo Genu valgum Poor speech Corneal opacity Lumbar hyperlordosis Respiratory tract infection Hyperlordosis Muscular hypotonia of the trunk Abnormality of the nervous system Hepatosplenomegaly Coarse facial features Skeletal dysplasia Dyspnea Inguinal hernia Arrhythmia Spastic tetraplegia Hypertrichosis Hypertonia Dysostosis multiplex Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Broad ribs Spinal cord compression Gingival overgrowth Thoracic kyphosis Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Abnormal heart valve morphology Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Widely spaced teeth Cardiac arrest Muscle weakness Hydrocephalus Short philtrum Keratitis Absent nipple Cleft soft palate Large earlobe Megalocornea Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Thickened calvaria Mixed hearing impairment Cutaneous syndactyly Abnormality of the cervical spine Narrow forehead Broad nasal tip Hypoplasia of the maxilla Delayed eruption of teeth Highly arched eyebrow Downturned corners of mouth Wide nose Flat face Thin vermilion border Synophrys Prominent nasal tip Ureteral stenosis Talipes equinovarus Unilateral cleft palate Hepatomegaly Spasticity Amelia involving the lower limbs Advanced pneumatization of the mastoid process Upper limb peromelia Lagopthalmos Abnormality of the shape of the midface Abnormality of dentin Abnormality of the vertebral spinous processes Rootless teeth Penoscrotal hypospadias Blepharochalasis Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Phthisis bulbi Multiple impacted teeth Thoracolumbar kyphoscoliosis Postductal coarctation of the aorta


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