Low-set ears, and Situs inversus totalis

Diseases related with Low-set ears and Situs inversus totalis

In the following list you will find some of the most common rare diseases related to Low-set ears and Situs inversus totalis that can help you solving undiagnosed cases.

Top matches:

NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

Related symptoms:

  • Low-set ears
  • Anemia
  • Respiratory insufficiency
  • Renal insufficiency
  • Dilatation


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 3; NPHP3

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Related symptoms:

  • Respiratory distress
  • Agenesis of corpus callosum
  • Narrow mouth
  • Polyhydramnios
  • Low-set, posteriorly rotated ears


SOURCES: ORPHANET MENDELIAN

More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

High match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Other less relevant matches:

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

High match JOUBERT SYNDROME

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Situs inversus totalis

Symptoms // Phenotype % cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Ventricular septal defect Agenesis of corpus callosum Atrial septal defect Dextrocardia Growth delay Micrognathia Scoliosis Intrauterine growth retardation Epicanthus High palate Retrognathia Talipes equinovarus Seizures Transposition of the great arteries Anteverted nares Depressed nasal bridge Muscular hypotonia Hydronephrosis Microcephaly Cryptorchidism Hydrocephalus Failure to thrive Ptosis Oligohydramnios Narrow mouth Polyhydramnios Abnormality of the kidney

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Microphthalmia Strabismus Anemia Apnea Highly arched eyebrow Generalized hypotonia Pulmonary hypoplasia Abnormal form of the vertebral bodies Posteriorly rotated ears Holoprosencephaly Downslanted palpebral fissures Hearing impairment Abnormal cardiac septum morphology Intellectual disability, severe Patent ductus arteriosus Hepatic fibrosis Common atrium Abnormality of the pinna Attention deficit hyperactivity disorder Wide anterior fontanel Cutis laxa Micropenis Specific learning disability Aplasia/Hypoplasia of the corpus callosum Multicystic kidney dysplasia Encephalocele Depressed nasal ridge Postaxial hand polydactyly Dandy-Walker malformation Bilateral trilobed lungs Talipes Abnormal heart morphology Mandibular aplasia Short neck Total anomalous pulmonary venous return Anal atresia Flexion contracture Low-set, posteriorly rotated ears Ambiguous genitalia Abnormality of the eye Synotia Midface retrusion Brachydactyly Polysplenia Pectus carinatum Asplenia Anomalous pulmonary venous return Heterotaxy Abdominal situs inversus Camptodactyly Microglossia Respiratory distress Pectus excavatum Umbilical hernia Autism Mandibular prognathia Abnormality of the genitourinary system Sleep apnea High forehead Anxiety Craniosynostosis Prominent forehead Gastrointestinal hemorrhage Protruding ear Neurological speech impairment Poor speech Stereotypy Tetralogy of Fallot Wide nose Thick vermilion border Narrow face Smooth philtrum Sparse and thin eyebrow Behavioral abnormality Turricephaly Narrow palate Coxa vara Preaxial polydactyly Trigonocephaly Bilateral cryptorchidism Supernumerary nipple Broad thumb Wide intermamillary distance External genital hypoplasia Webbed neck Cutaneous finger syndactyly Shawl scrotum Abnormality of the skull Finger syndactyly Preaxial foot polydactyly Cloverleaf skull Postaxial polydactyly Oxycephaly Abnormal cornea morphology Diaphragmatic eventration Genu valgum Narrow naris Aplasia of the middle phalanx of the hand Abnormal reproductive system morphology Toe syndactyly Short stature Delayed speech and language development Hypoplastic nipples Hypoplasia of penis Laryngomalacia Abnormality of the urinary system Mask-like facies Hypoplasia of the brainstem Myotonia Congenital contracture Radioulnar synostosis Pyloric stenosis Renal hypoplasia/aplasia Hydroureter Joint contracture of the hand Abnormality of the face Renal dysplasia Short palpebral fissure Renal hypoplasia Interphalangeal joint contracture of finger Peripheral demyelination Metatarsus adductus Decreased muscle mass Bifid uvula Limb joint contracture Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Epispadias Abnormality of the sternum Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Submucous cleft hard palate Absent septum pellucidum Renal agenesis High, narrow palate Nasal speech Urethral stenosis Motor delay Feeding difficulties Subependymal cysts Aplasia/Hypoplasia of the thymus Persistent left superior vena cava Anterior creases of earlobe Velopharyngeal insufficiency Abnormality of the pharynx Ventriculomegaly Interrupted aortic arch Dyslexia Double outlet right ventricle Abnormality of immune system physiology Hypoplastic left heart Obsessive-compulsive behavior Stridor Skeletal muscle atrophy Hypoplasia of the corpus callosum Arachnodactyly Aggressive behavior Arthrogryposis multiplex congenita Muscular dystrophy Camptodactyly of finger Blepharophimosis Joint stiffness Respiratory tract infection Postnatal growth retardation Hyperactivity Myopathy Severe short stature Cerebellar hypoplasia Inguinal hernia Areflexia Hypospadias Long philtrum Kyphosis Displacement of the external urethral meatus Oculomotor apraxia Polydactyly Short philtrum Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Polyuria Cone-shaped epiphysis Polydipsia Hepatomegaly Edema Splenomegaly Thrombocytopenia Hepatosplenomegaly Wide mouth Small for gestational age Stenosis of the external auditory canal Synophrys Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Asthma Coarctation of aorta Pancytopenia Telangiectasia Decreased liver function Hydrops fetalis Deep philtrum Poor suck Patent foramen ovale Hyperplasia of the maxilla Tracheomalacia Premature skin wrinkling Pulmonary artery atresia Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the eyebrow Abnormal cranial nerve morphology Cyclopia Aplasia/Hypoplasia involving the nose Narrow internal auditory canal Absent nares Congestive heart failure Aplasia of the bladder Pulmonic stenosis Renal corticomedullary cysts Atrioventricular canal defect Abnormal lung lobation Choanal stenosis Complete atrioventricular canal defect Nephronophthisis Tubular atrophy Atresia of the external auditory canal Abnormality of the outer ear Hypotelorism Intestinal malrotation Hypoplasia of the maxilla Conductive hearing impairment Enuresis Biliary atresia Tubulointerstitial fibrosis Hyperechogenic kidneys Tubulointerstitial abnormality Right atrial isomerism Left atrial isomerism Single ventricle Clitoral hypertrophy Biventricular hypertrophy Brachycephaly Biparietal narrowing Rod-cone dystrophy Tremor Gait disturbance Dilatation Feeding difficulties in infancy Prominent nasal bridge Oral cleft Long face Polymicrogyria Iris coloboma Cerebellar vermis hypoplasia Aganglionic megacolon Hand polydactyly Abnormality of neuronal migration Foot polydactyly Ataxia Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Episodic tachypnea Sensorineural hearing impairment Renal insufficiency Respiratory insufficiency Wide nasal bridge Frontal bossing Abnormality of the skeletal system Syndactyly Hernia Obesity Clinodactyly Upslanted palpebral fissure Nystagmus Stage 5 chronic kidney disease Micronodular cirrhosis Preaxial hand polydactyly Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Cataract Renal cyst Optic atrophy Nephropathy Microcornea Full cheeks Sloping forehead Bowing of the long bones Anophthalmia Anencephaly Cystic liver disease Aplasia/Hypoplasia of the iris Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Accessory spleen Male pseudohermaphroditism Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Furrowed tongue Sclerocornea Postaxial foot polydactyly Abnormal anatomic location of the heart


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