Edema, and Low-set, posteriorly rotated ears

Diseases related with Edema and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Edema and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Other less relevant matches:

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

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

Medium match MEVALONIC ACIDURIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Edema and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears Intellectual disability Depressed nasal bridge Short neck Generalized hypotonia Splenomegaly Growth delay Muscular hypotonia Anteverted nares High forehead Triangular face Polyhydramnios Downslanted palpebral fissures Pectus excavatum Abnormality of cardiovascular system morphology Hepatosplenomegaly Strabismus Respiratory distress Atrial septal defect Cryptorchidism High palate Highly arched eyebrow Intrauterine growth retardation Hepatomegaly Failure to thrive Ascites Abnormality of the pinna Hearing impairment Depressed nasal ridge Thrombocytopenia Umbilical hernia Scoliosis Proptosis Abnormality of the liver Pulmonary hypoplasia Epicanthus Inguinal hernia Cleft palate Flexion contracture Ventriculomegaly Pectus carinatum Wide intermamillary distance Ventricular septal defect Cataract

Rare Symptoms - Less than 30% cases

Dandy-Walker malformation Nevus Full cheeks Flat face Hydrops fetalis Microtia Blepharophimosis Telecanthus Narrow mouth Short palpebral fissure Upslanted palpebral fissure Abnormal heart morphology Hypospadias Microphthalmia Long philtrum Intellectual disability, mild Wide nasal bridge Motor delay Delayed speech and language development Cafe-au-lait spot Brachycephaly Malar flattening Hypertrichosis Clinodactyly of the 5th finger Poor suck Petechiae Extramedullary hematopoiesis Abnormality of the skeletal system Talipes equinovarus Clinodactyly Retrognathia Abnormality of the spleen Joint laxity Camptodactyly Postnatal growth retardation Coarctation of aorta Finger clinodactyly Short nose Apnea Pleural effusion Underdeveloped nasal alae Abnormality of the face Thick vermilion border Thickened skin Overfolded helix Abnormal bleeding Glaucoma Craniosynostosis Coloboma Broad forehead Anemia Cognitive impairment Myopathy Delayed skeletal maturation Elevated hepatic transaminase Leukemia Dolichocephaly Metabolic acidosis Frontal bossing Wide nose Optic atrophy Congestive heart failure Abnormality of the thorax Akinesia Respiratory insufficiency Thick eyebrow Ataxia Abnormality of the spinal cord Multiple joint contractures Congenital contracture Hypertension Webbed neck Everted lower lip vermilion Arthrogryposis multiplex congenita Aplasia/Hypoplasia of the corpus callosum Fetal akinesia sequence Hypertonia Sparse hair Oligohydramnios Narrow forehead Macrotia Skeletal muscle atrophy Neonatal respiratory distress Absence of renal corticomedullary differentiation Ectropion Apathy Cerebellar hypoplasia Abnormality of coagulation Intracranial hemorrhage Agenesis of corpus callosum Purpura Knee flexion contracture Protruding ear Thoracic hypoplasia Distal arthrogryposis Opisthotonus Severe hydrops fetalis Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Generalized hyperkeratosis Hypokinesia Everted upper lip vermilion Pneumothorax Astrocytosis Absent speech Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Cardiorespiratory arrest Progressive neurologic deterioration Congenital ichthyosiform erythroderma Open mouth Poor speech Interphalangeal joint contracture of finger Chronic otitis media Ankyloglossia Thin eyebrow Short hallux Pierre-Robin sequence Glossoptosis Short humerus Cystic hygroma Dextrocardia Short middle phalanx of finger Adducted thumb Metatarsus valgus Narrow palpebral fissure Joint dislocation Short toe Wide anterior fontanel Abnormality of epiphysis morphology Decreased body weight Small nail Abnormal cerebellum morphology Single transverse palmar crease Overriding aorta Knee dislocation Pancytopenia Neonatal hypotonia Cardiomegaly Decreased fetal movement Cerebral calcification Premature birth High, narrow palate Hepatic failure Ichthyosis Abnormality of eye movement Developmental regression Jaundice Prominent antihelix Hyperkeratosis Hirsutism Dysphagia Hyperreflexia Spasticity Hyperphalangy of the 2nd finger Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Oral synechia Mild fetal ventriculomegaly Abnormality of the eye Neoplasm Fine hair Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Lymphedema Hyperpigmentation of the skin Mitral regurgitation Low posterior hairline Failure to thrive in infancy Epistaxis Cyanosis Hip dysplasia Esotropia Lymphoma Bruising susceptibility Falls Joint hypermobility Astigmatism Abnormality of the foot Cholelithiasis Bilateral ptosis Hypermetropia Broad toe Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Prominent fingertip pads Cubitus valgus Chylothorax Hypochromic microcytic anemia B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Pulmonic stenosis Feeding difficulties in infancy Intellectual disability, severe Ambiguous genitalia Myelodysplasia Abnormality of vision Sleep apnea Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Multicystic kidney dysplasia Rhizomelia Sloping forehead Aplasia/Hypoplasia of the cerebellum Growth hormone deficiency Bulbous nose Long face Abnormality of skin pigmentation Muscular dystrophy Small for gestational age Corneal opacity Short distal phalanx of finger Deeply set eye Hypothyroidism Nephroblastoma Colon cancer Gastroesophageal reflux Abnormal aortic morphology Prominent forehead Cardiomyopathy Gait disturbance Macrocephaly Feeding difficulties Ptosis Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Stomach cancer Atrioventricular canal defect Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Acute lymphoblastic leukemia Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Iris coloboma Long eyelashes Cleft upper lip Abnormality of the scrotum Abnormality of the amniotic fluid Midface retrusion Recurrent infections Syndactyly Abnormality of the dentition Widening of cervical spinal canal Paucity of anterior horn motor neurons Localized neuroblastoma Increased number of skin folds Upper limb asymmetry Hypoplasia of the musculature Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Micropenis Mandibular prognathia Abnormality of the musculature Abnormality of the hip bone Keratitis Bifid scrotum Cutaneous syndactyly Pointed chin Dental malocclusion Bifid uvula Broad nasal tip Hypoplasia of the maxilla Delayed eruption of teeth Downturned corners of mouth Thin upper lip vermilion Slender long bone Thin vermilion border Facial asymmetry Synophrys Carious teeth Abnormality of the elbow Short philtrum Abnormal cortical bone morphology Amniotic constriction ring Intellectual disability, moderate Cerebellar vermis atrophy Long fingers Abnormality of the vertebral column Hypoplasia of the corpus callosum Portal hypertension Enlarged kidney Multiple renal cysts Chronic lung disease Hernia Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Pancreatic cysts Chronic kidney disease Hepatic cysts Tubulointerstitial fibrosis Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Potter facies Periportal fibrosis Hypoplasia of the ear cartilage Polycystic kidney dysplasia Renal hypoplasia/aplasia Overlapping toe Febrile seizures Tricuspid regurgitation Optic nerve hypoplasia Scrotal hypoplasia Cutis laxa Generalized hirsutism Hypoplasia of dental enamel Renal insufficiency Dilatation Respiratory failure Abnormality of the skin Hepatic fibrosis Abnormality of the kidney Scarring Microcornea Stage 5 chronic kidney disease Severe global developmental delay Renal cyst Retinopathy Dehydration Cholestasis Abnormal lung morphology Mixed hearing impairment Thickened calvaria Talipes Recurrent fractures Nuclear cataract Severe failure to thrive Upper eyelid edema Leukocytosis Large fontanelles Clumsiness Blue sclerae Aciduria Progressive cerebellar ataxia Retinal dystrophy Cholestatic liver disease Lactic acidosis Lymphadenopathy Malabsorption Limitation of joint mobility Skin rash Abnormality of the nervous system Abnormality of the ribs Hypoglycemia Arthralgia Organic aciduria Agenesis of cerebellar vermis Acidosis Limb hypertonia Joint hyperflexibility Camptodactyly of finger Joint stiffness Cerebellar vermis hypoplasia Thick lower lip vermilion Azotemia Low anterior hairline Partial agenesis of the corpus callosum Palpebral edema Congenital microcephaly Nonprogressive cerebellar ataxia Brachydactyly Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Kyphoscoliosis Cerebral cortical atrophy Anteriorly placed anus Abnormality of the cervical spine Attached earlobe Submucous cleft soft palate Periorbital wrinkles Phthisis bulbi Multiple impacted teeth Thoracolumbar kyphoscoliosis Penoscrotal hypospadias Ureteral stenosis Bladder exstrophy Prominent nasal tip Dentinogenesis imperfecta limited to primary teeth Absent nipple Cleft soft palate Concave nasal ridge Large earlobe Eyelid coloboma Thoracolumbar scoliosis Megalocornea Premature loss of teeth Submucous cleft hard palate Absent external genitalia Abnormality of the sella turcica Abdominal pain Spinal muscular atrophy Abnormal form of the vertebral bodies Elevated serum creatine phosphokinase Obesity Pterygium Cerebral atrophy Diarrhea Vomiting Cerebellar atrophy Fever Pain Blepharochalasis Nystagmus 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 Unilateral cleft palate Rootless teeth Abnormality of the subarachnoid space


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