Hearing impairment, and Atrial septal defect

Diseases related with Hearing impairment and Atrial septal defect

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

Top matches:

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of|dih|diaphragm, unilateral agenesis of|hernia, congenital diaphragmatic|hcd|cdh|diaphragmatic defect, congenital

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertension
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DIAPHRAGMATIC HERNIA

Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Other less relevant matches:

Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.

BOSLEY-SALIH-ALORAINY SYNDROME Is also known as navajo brainstem syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about BOSLEY-SALIH-ALORAINY SYNDROME

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

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

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Hearing impairment and Atrial septal defect

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Microcephaly Tracheomalacia

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Micrognathia Poor speech Blepharophimosis Behavioral abnormality Tented upper lip vermilion Short nose Short stature Abnormality of the outer ear Bifid uvula Renal hypoplasia Narrow mouth Conductive hearing impairment Abnormality of the eye Anal atresia Nystagmus Cerebral atrophy Intellectual disability, mild Hypoplasia of the maxilla Hypertelorism Growth delay Respiratory distress Macrocephaly Hernia Delayed speech and language development Pulmonary hypoplasia Intellectual disability, severe Strabismus Secundum atrial septal defect Wide nasal bridge Generalized hypotonia Short palpebral fissure Corneal opacity Ectopia lentis Congenital cataract Visual impairment Myopia Optic nerve hypoplasia Umbilical hernia Abnormality of the dentition Photophobia Aplasia/Hypoplasia of the corpus callosum Microcornea Abnormality of the genital system Glaucoma Opacification of the corneal stroma External ear malformation Ptosis Preauricular skin tag Feeding difficulties in infancy Protruding ear Coloboma Abnormal cardiac septum morphology Short philtrum Prominent nasal bridge Cleft upper lip Thin vermilion border Prominent nose Underdeveloped nasal alae Choanal atresia Renal dysplasia Narrow palpebral fissure Cataract Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment Keratoconus Eyelid coloboma Hypomimic face Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Keratitis Abnormality of the optic nerve Keratoconjunctivitis sicca Spastic tetraparesis Developmental regression Abnormal pyramidal sign Abnormal cerebellum morphology Gliosis Aciduria Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Tetraparesis Leukodystrophy Truncal ataxia Horizontal nystagmus Intellectual disability, progressive Leukoencephalopathy Myoclonus Encephalitis Aplasia/Hypoplasia of the cerebellum Global brain atrophy Dysphasia Atrophy/Degeneration affecting the brainstem Corpus callosum atrophy Organic aciduria Morphological abnormality of the pyramidal tract Neoplasm of the nervous system Ependymoma L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric acidemia Gait ataxia Dystonia Aniridia Abnormality of the hypothalamus-pituitary axis Posterior embryotoxon Iris hypopigmentation Hypoplasia of the iris Increased intraocular pressure Sclerocornea Corneal erosion Ectopia pupillae Optic nerve coloboma Mandibular prognathia Corneal neovascularization Anterior segment developmental abnormality Peters anomaly Anterior synechiae of the anterior chamber Cerebellar atrophy Macular hypoplasia Posterior polar cataract Aplasia/Hypoplasia of the iris Rieger anomaly Polycoria Abnormality of the sense of smell Axenfeld anomaly Aphakia Macular hypopigmentation Ataxia Muscular hypotonia Optic atrophy Cleft lip Telecanthus Inguinal hernia Paralysis Spinal dysraphism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Laryngeal web Dysphagia Respiratory failure Autism Facial palsy Autistic behavior Abnormality of eye movement Tethered cord Abnormality of movement Delayed gross motor development Hypoventilation Vocal cord paralysis Facial paralysis Central hypoventilation Abnormality of brainstem morphology Abducens palsy Conotruncal defect Abnormal cerebral artery morphology Cochlear aplasia Butterfly vertebrae Mitral stenosis Failure to thrive Posterolateral diaphragmatic hernia Hypertension Syndactyly Polydactyly Gastroesophageal reflux Congenital diaphragmatic hernia Spontaneous abortion Pterygium Abnormality of digit Developmental stagnation Abnormality of the diaphragm Agenesis of the diaphragm Absent speech Lipoma Broad nasal tip Brain atrophy Dandy-Walker malformation Aganglionic megacolon Absence seizures Elevated alkaline phosphatase Hyperphosphatemia Mild microcephaly Talipes Aortic valve stenosis Hypoplastic left heart Double aortic arch Muscle weakness Abnormality of metabolism/homeostasis Spastic paraplegia Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Synotia Joint stiffness Camptodactyly of finger Thick eyebrow Microglossia Abnormality of the face Narrow nasal bridge Cutaneous finger syndactyly Synostosis of carpal bones Acrocyanosis Abnormality of finger White hair Abnormality of the upper limb Atelectasis Ventricular septal defect Malar flattening Stenosis of the external auditory canal Transposition of the great arteries Skeletal muscle atrophy Narrow foot Frontal bossing Elevated hepatic transaminase Pulmonic stenosis Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Portal fibrosis Hypermethioninemia Abnormal facial shape Atresia of the external auditory canal Low-set ears Talipes equinovarus Abnormal heart morphology Agenesis of corpus callosum Posteriorly rotated ears Polyhydramnios Retrognathia Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Severe demyelination of the white matter


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