Hypertelorism, and Situs inversus totalis

Diseases related with Hypertelorism and Situs inversus totalis

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

Top matches:

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

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

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

Other less relevant matches:

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

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

Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.

RESTRICTIVE DERMOPATHY Is also known as fetal hypokinesia sequence due to restrictive dermopathy|hyperkeratosis-contracture syndrome|lethal restrictive dermopathy|tight skin contracture syndrome, lethal|tight skin contracture syndrome

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RESTRICTIVE DERMOPATHY

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

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Top 5 symptoms//phenotypes associated to Hypertelorism and Situs inversus totalis

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Dextrocardia Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Cleft palate Micrognathia Abnormal facial shape Intrauterine growth retardation Cryptorchidism Ventricular septal defect Abnormality of the pinna Transposition of the great arteries High palate Intellectual disability Epicanthus Brachydactyly Failure to thrive Asplenia Scoliosis Patent ductus arteriosus Polysplenia Global developmental delay Short neck Pulmonary hypoplasia Dandy-Walker malformation Talipes Hydrocephalus Kyphoscoliosis Depressed nasal bridge Anteverted nares Midface retrusion Pectus excavatum Retrognathia Camptodactyly Pectus carinatum Seizures Short stature Hypospadias Camptodactyly of finger Microcephaly Talipes equinovarus Abnormal heart morphology Oligohydramnios Common atrium Heterotaxy Abdominal situs inversus

Rare Symptoms - Less than 30% cases

Webbed neck Ventriculomegaly Abnormality of the kidney Hydronephrosis Kyphosis Polydactyly Highly arched eyebrow Severe short stature Inguinal hernia Postaxial polydactyly Posteriorly rotated ears Mandibular prognathia Narrow mouth Polyhydramnios Attention deficit hyperactivity disorder Abnormal lung lobation Strabismus Agenesis of corpus callosum Biliary atresia Single ventricle Specific learning disability Bilateral trilobed lungs Abnormality of the skeletal system Anomalous pulmonary venous return Obesity Renal dysplasia Clinodactyly Upslanted palpebral fissure Brachycephaly Micropenis Pulmonary artery atresia Umbilical hernia Joint stiffness Postnatal growth retardation Pancreatic fibrosis Blepharophimosis Optic atrophy Full cheeks Pancreatic cysts Wide anterior fontanel Hearing impairment Low-set, posteriorly rotated ears Microphthalmia Respiratory tract infection Generalized hypotonia Postaxial hand polydactyly Anal atresia Intestinal malrotation Renal agenesis Pyloric stenosis Ambiguous genitalia Congenital contracture Double outlet right ventricle Submucous cleft hard palate Cerebellar hypoplasia Total anomalous pulmonary venous return Intellectual disability, severe Ptosis Arthrogryposis multiplex congenita Fixed facial expression Downslanted palpebral fissures Delayed speech and language development Interphalangeal joint contracture of finger Multicystic kidney dysplasia Short palpebral fissure Muscular hypotonia Depressed nasal ridge Ureteral duplication Pulmonic stenosis Widely patent fontanelles and sutures Entropion Congenital pseudoarthrosis of the clavicle Small face Aplasia/Hypoplasia involving the nose Congenital adrenal hypoplasia Microcolon Narrow vertebral interpedicular distance Stiff skin Skin erosion Ascending tubular aorta aneurysm Short nail Dermal translucency Thoracic kyphoscoliosis Narrow nasal ridge Generalized hyperkeratosis Sparse or absent eyelashes Sparse eyebrow Decreased skull ossification Abnormality of the penis Telecanthus Osteopenia Hyperkeratosis Mild postnatal growth retardation Abnormal anatomic location of the heart Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the cerebellar vermis Premature birth Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Sparse hair Abnormality of the skin Trismus Thin ribs Adrenal hypoplasia Absent eyelashes Abnormality of the vasculature Severe intrauterine growth retardation Ankylosis Parakeratosis Aplasia cutis congenita Natal tooth Aplasia/Hypoplasia of the eyebrow Decreased fetal movement Multiple joint contractures Rocker bottom foot Ectropion Scaling skin Decreased calvarial ossification Dermal atrophy Sparse eyelashes Large fontanelles Choanal atresia Premature rupture of membranes Blue irides Aplasia/Hypoplasia of the clavicles Pain Small hand Short palm Small for gestational age Skeletal dysplasia Hypothyroidism Hypogonadism Short nose Menstrual irregularities Hypertension Hyperphalangy of the 2nd finger Hypoplasia of the maxilla Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Constrictive median neuropathy Overriding aorta Ankyloglossia Delayed eruption of teeth Hypodontia Short hallux Elevated circulating parathyroid hormone level Epiphyseal stippling Spinal canal stenosis Dislocated radial head Broad palm Short finger Mixed hearing impairment Mild short stature Cone-shaped epiphysis Fair hair Melanocytic nevus Broad nasal tip Short metatarsal Disproportionate short-limb short stature Increased intracranial pressure Accelerated skeletal maturation Short phalanx of finger Open mouth Otitis media Short metacarpal Dental malocclusion Nevus Thin eyebrow Pierre-Robin sequence Thin clavicles Aplasia/Hypoplastia of the eccrine sweat glands Joint laxity Proptosis Clinodactyly of the 5th finger Cone-shaped epiphyses of the phalanges of the hand Malar flattening Edema Respiratory distress Increased anterioposterior diameter of thorax Hydropic placenta Premature delivery because of cervical insufficiency or membrane fragility Coloboma Structural foot deformity Prominent superficial blood vessels Overtubulated long bones Abnormal cellular phenotype Epidermal hyperkeratosis Gastrointestinal atresia Short umbilical cord Large placenta Small placenta Temporomandibular joint ankylosis Calvarial hyperostosis Joint hyperflexibility Glossoptosis Abnormality of epiphysis morphology Short humerus Cystic hygroma Short middle phalanx of finger Chronic otitis media Adducted thumb Narrow palpebral fissure Joint dislocation Finger clinodactyly Short toe Decreased body weight Thyroid hypoplasia Hypertrichosis Small nail Long hallux Coarctation of aorta Single transverse palmar crease Iris coloboma Abnormality of the sternum Short distal phalanx of finger Cleft upper lip Hypoplastic vertebral bodies Absent septum pellucidum Obsessive-compulsive behavior Decreased muscle mass Hepatic failure Type I diabetes mellitus Spontaneous abortion Aortic valve stenosis Hepatic fibrosis Cholestasis Renal cyst Polymicrogyria Cirrhosis Preauricular pit Stage 5 chronic kidney disease Jaundice Acidosis Diabetes mellitus Renal insufficiency Respiratory insufficiency Hepatomegaly Polycystic kidney dysplasia Enlarged kidney Lobar holoprosencephaly Sensorineural hearing impairment Finger syndactyly Craniosynostosis Protruding ear Hernia Syndactyly Frontal bossing Wide nasal bridge Pancreatic dysplasia Biliary cirrhosis Ureteral atresia Multiple glomerular cysts Glutaric acidemia Potter facies Portal fibrosis Hepatic cysts Short sternum Bile duct proliferation Cystic liver disease True hermaphroditism Genu valgum Recurrent respiratory infections Pulmonary artery hypoplasia Duodenal atresia Myelomeningocele Ciliary dyskinesia Holoprosencephaly Cardiomegaly Dyskinesia Arrhythmia Dextrotransposition of the great arteries Right atrial isomerism Left atrial isomerism Complete atrioventricular canal defect Choanal stenosis Atrioventricular canal defect Abnormal cardiac septum morphology Congestive heart failure Mitral atresia Posteriorly placed anus Aplasia/Hypoplasia of the tongue Postaxial foot polydactyly Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Congenital hepatic fibrosis Furrowed tongue Sclerocornea Male pseudohermaphroditism Cataract Anencephaly Preaxial hand polydactyly Anophthalmia Aplasia/Hypoplasia of the corpus callosum Bowing of the long bones Encephalocele Sloping forehead Microcornea Toe syndactyly Wide intermamillary distance Hydroureter Persistent left superior vena cava Hypoplasia of the corpus callosum Skeletal muscle atrophy Motor delay Feeding difficulties Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Anterior creases of earlobe Long philtrum Velopharyngeal insufficiency Urethral stenosis Abnormality of the pharynx Interrupted aortic arch Dyslexia Abnormality of immune system physiology Hypoplastic left heart Myopathy Areflexia Nasal speech Joint contracture of the hand Metatarsus adductus Mask-like facies Hypoplasia of the brainstem Myotonia Radioulnar synostosis Abnormality of the urinary system Renal hypoplasia/aplasia Abnormality of the face Hyperactivity Abnormal form of the vertebral bodies Renal hypoplasia Peripheral demyelination Bifid uvula High, narrow palate Arachnodactyly Muscular dystrophy Aggressive behavior Stridor Laryngomalacia Broad thumb Cutaneous finger syndactyly Oxycephaly Cloverleaf skull Preaxial foot polydactyly Abnormality of the skull Turricephaly Shawl scrotum Hypoplastic nipples External genital hypoplasia Diaphragmatic eventration Supernumerary nipple Bilateral cryptorchidism Trigonocephaly Preaxial polydactyly Cutis laxa Coxa vara Narrow palate Sparse and thin eyebrow Abnormal cornea morphology Narrow naris Abnormality of the genitourinary system Smooth philtrum Sleep apnea Narrow face Stereotypy Tetralogy of Fallot Gastrointestinal hemorrhage Thick vermilion border Wide nose Poor speech Aplasia of the middle phalanx of the hand Neurological speech impairment Apnea Anxiety High forehead Autism Prominent forehead Behavioral abnormality Abnormal reproductive system morphology Neonatal epiphyseal stippling


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