Hearing impairment, and Tetralogy of Fallot

Diseases related with Hearing impairment and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Hearing impairment and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Other less relevant matches:

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Low match TARP SYNDROME

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Horseshoe kidney Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Vesicoureteral reflux Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Epicanthus Cleft palate Ventricular septal defect Generalized hypotonia Low-set ears Cryptorchidism Intrauterine growth retardation Abnormal cardiac septum morphology Patent ductus arteriosus Polydactyly Ventriculomegaly Failure to thrive Short stature Brachycephaly Coarctation of aorta Micrognathia Sensorineural hearing impairment Clinodactyly Ptosis Wide nasal bridge Atrial septal defect High palate Microphthalmia Abnormal facial shape Abnormal heart morphology Short palpebral fissure

Rare Symptoms - Less than 30% cases

Hydronephrosis Optic nerve hypoplasia Absent septum pellucidum Abnormality of the genitourinary system Short thumb Finger syndactyly Hypoplasia of the corpus callosum Abnormality of the kidney Low-set, posteriorly rotated ears Respiratory failure Seizures Triphalangeal thumb Abnormality of cardiovascular system morphology Renal malrotation Toe syndactyly Posteriorly rotated ears Conductive hearing impairment Postaxial polydactyly Muscular hypotonia Anteverted nares Renal insufficiency Inguinal hernia Scoliosis Talipes Agenesis of corpus callosum Cataract Optic nerve coloboma Micropenis Coloboma Cupped ear Renal hypoplasia Postnatal growth retardation 2-3 toe syndactyly Cleft lip Bilateral sensorineural hearing impairment Syndactyly Short nose Single transverse palmar crease Short neck Strabismus Microcephaly Short sternum Iris coloboma Microcornea Aganglionic megacolon Visual impairment Sandal gap Renal hypoplasia/aplasia Vertebral segmentation defect Chorioretinal coloboma Preaxial hand polydactyly Hypoplasia of the ulna Aplasia/Hypoplasia of the frontal sinuses Vertebral fusion Short humerus Deep palmar crease Cleft soft palate Aplasia/Hypoplasia of the radius Short hallux Broad hallux phalanx Nystagmus Mild intrauterine growth retardation Pectoral muscle hypoplasia/aplasia Sparse eyebrow Brachydactyly Intellectual disability, mild Tongue nodules Camptodactyly of finger Hypoplasia of the maxilla Underdeveloped nasal alae Preauricular skin tag Recurrent pneumonia Finger clinodactyly Sparse eyelashes Prominent antihelix Absent eyebrow Hypoplasia of the frontal bone Persistent left superior vena cava Facial cleft Eyelid coloboma Widow's peak Bifid nose Wide nasal base Upper eyelid coloboma Caudal appendage Abnormal corpus callosum morphology Abnormality of the thumb Cranium bifidum occultum Lipoma of corpus callosum Prominent glabella Pierre-Robin sequence Abnormal hair pattern Abnormality of the diaphragm Anophthalmia Rocker bottom foot Hypoplasia of the uterus Hiatus hernia Truncus arteriosus Pulmonary artery atresia Abnormality of the uterus Bicornuate uterus Bilateral microphthalmos Diaphragmatic eventration Duodenal stenosis Cerebellar hypoplasia Pectus excavatum Abnormality of the genital system Annular pancreas Overriding aorta Talipes equinovarus Single ventricle Optic atrophy Agenesis of pulmonary vessels Abnormal spleen morphology Pelvic kidney Pulmonary artery hypoplasia Bilateral lung agenesis Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Microtia Abnormal lung morphology Bladder diverticulum Hernia Right aortic arch with mirror image branching Glossoptosis Underdeveloped supraorbital ridges Athetosis Optic disc hypoplasia Abnormality of the radius Radial club hand Crossed fused renal ectopia Short distal phalanx of the thumb Hypoplasia of the radius Flexion contracture Respiratory insufficiency Respiratory distress Cutaneous syndactyly Intellectual disability, profound Severe short stature Large fontanelles Cerebellar vermis hypoplasia Round face Camptodactyly Protruding ear Blepharophimosis Pectus carinatum Hepatic failure Pulmonic stenosis Pulmonary hypoplasia Intestinal malrotation Gait imbalance Congenital diaphragmatic hernia Protruding tongue Flat acetabular roof Fibular aplasia High forehead Broad forehead Hip dislocation Broad thumb Coxa valga Adducted thumb Genu varum Abnormality of coagulation Absent radius Patellar dislocation Fused cervical vertebrae Aplasia of the uterus Phocomelia Thrombocytopenia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Axial malrotation of the kidney Neoplasm Anemia Recurrent infections Osteoporosis Polyhydramnios Osteopenia Clinodactyly of the 5th finger Central Y-shaped metacarpal Recurrent otitis media Narrow chest Congestive heart failure Wide mouth Smooth philtrum Abnormality of skin pigmentation Sloping forehead Cutis marmorata Chromosome breakage Small face Premature chromatid separation Hypoplasia of the cochlea Delayed speech and language development Prominent forehead Retrognathia High, narrow palate Short middle phalanx of the 2nd finger Prominent nose Dental malocclusion Decreased body weight Short ribs CNS hypomyelination Abnormality of digit Prominent metopic ridge Inverted nipples Median cleft lip Clubbing of fingers Bifid tongue Partial duplication of thumb phalanx Short 2nd finger Neutropenia Choanal atresia Short clavicles Abnormality of the skeletal system Mutism Apathy Flat occiput Aphasia Dysphasia Epileptic spasms Echolalia Abnormality of the testis Femoral hernia Subcortical cerebral atrophy Conotruncal defect Cerebral cortical hemiatrophy Macrocephaly Upslanted palpebral fissure Absence seizures Hypogonadism Coarse facial features Astigmatism Tapered finger Postural instability Ambiguous genitalia Omphalocele Wormian bones Arnold-Chiari malformation Trigonocephaly Short femoral neck Neurodevelopmental delay Anteriorly placed anus Aortic regurgitation Aortic valve stenosis Atresia of the external auditory canal Midface retrusion Macrocytic anemia Sprengel anomaly Recurrent lower respiratory tract infections Esophagitis Increased mean corpuscular volume Secundum atrial septal defect Reticulocytopenia Fetal distress Vitamin D deficiency Small hypothenar eminence Uterine neoplasm Feeding difficulties Behavioral abnormality Obesity Status epilepticus Depressivity Cerebral cortical atrophy Autism Anxiety Irritability Synophrys Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Sleep disturbance Macroglossia Specific learning disability Hypoplasia of penis Cerebellar hemorrhage


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