Hearing impairment, and Oligohydramnios

Diseases related with Hearing impairment and Oligohydramnios

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

Top matches:

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (OMIM ) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary TractAlso see CAKUT2 (OMIM ), caused by mutation in the TBX18 gene (OMIM ) on chromosome 6q14.

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 Is also known as renal hypodysplasia, nonsyndromic, 1|rhdns1

Related symptoms:

  • Hearing impairment
  • Hypertension
  • Renal insufficiency
  • Hydronephrosis
  • Stage 5 chronic kidney disease


SOURCES: OMIM MESH MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Medium match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Medium match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Oligohydramnios

Symptoms // Phenotype % cases
Renal hypoplasia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Renal dysplasia Microcephaly Renal insufficiency Strabismus Seizures Muscular hypotonia Generalized hypotonia Epicanthus Short stature Small for gestational age Growth delay Sensorineural hearing impairment Hypertelorism Hydronephrosis Stage 5 chronic kidney disease Vesicoureteral reflux Renal agenesis Multicystic kidney dysplasia

Rare Symptoms - Less than 30% cases

Micropenis Downslanted palpebral fissures Visual impairment Motor delay Hypertension High palate Pulmonary hypoplasia Retrognathia Ptosis Wide nasal bridge Anteverted nares Conductive hearing impairment Malar flattening Frontal bossing Horseshoe kidney Renal hypoplasia/aplasia Depressed nasal bridge Ambiguous genitalia Short foot Bilateral sensorineural hearing impairment Abnormality of the pinna Abnormality of the kidney Flexion contracture Muscle weakness Unilateral renal agenesis Polyhydramnios Ectopic kidney Failure to thrive Microtia Ureteropelvic junction obstruction Delayed speech and language development Autism Cleft palate Hyperechogenic kidneys Long face Recurrent urinary tract infections Narrow face Cupped ear Polycystic kidney dysplasia Atresia of the external auditory canal Bifid ureter Poor speech Spina bifida Abnormal cardiac septum morphology Epiphora Preauricular pit Premature graying of hair Mixed hearing impairment External ear malformation Stenosis of the external auditory canal Congenital hip dislocation Atrial fibrillation Preauricular skin tag Thickened helices Lacrimal duct stenosis Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Myopia Dysphagia Hydrocephalus Microphthalmia Facial palsy Spina bifida occulta Poor eye contact Paralysis Flat face Bifid uvula Intestinal malrotation Microdontia Deep philtrum Chronic kidney disease Abnormality of the urinary system Decreased numbers of nephrons Lacrimation abnormality Lacrimal duct aplasia Overbite Upper limb undergrowth Short palm Highly arched eyebrow Small nail Hypertrichosis Large fontanelles Sparse and thin eyebrow Horizontal nystagmus Schizophrenia Focal impaired awareness seizure Language impairment Long fingers Shawl scrotum Ovarian cyst Hypermetropia Maturity-onset diabetes of the young Aplasia of the uterus Long toe Urethral stenosis Subcortical cerebral atrophy Hyperconvex nail Ureterocele Abnormality of upper lip Hypoplasia of the bladder Aplasia of the vagina Ureteral atresia Pica Pancreatic aplasia Facial asymmetry Nail dystrophy Bilateral renal agenesis Abnormality of the renal collecting system Abnormality of the middle ear ossicles Body odor Branchial cyst Arteria lusoria Branchial fistula Renal malrotation Cochlear malformation Hypoplasia of the cochlea Renal steatosis Bilateral renal dysplasia Unilateral renal hypoplasia Euthyroid goiter Abnormality of the cerebrum Protruding ear Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Enlarged cochlear aqueduct Gustatory lacrimation Micrognathia Behavioral abnormality Cerebral atrophy Diabetes mellitus Mandibular prognathia High forehead Elevated hepatic transaminase Autistic behavior Multiple joint contractures Abnormality of the nervous system Postnatal microcephaly Elevated serum creatinine Abnormal renal corticomedullary differentiation Syndactyly Upslanted palpebral fissure Muscular hypotonia of the trunk Generalized tonic-clonic seizures Synophrys Toe syndactyly Smooth philtrum Wide intermamillary distance Broad-based gait Stereotypy Peripheral demyelination Cerebral visual impairment Widely spaced teeth Drooling Coarse hair Bilateral ptosis 2-3 toe syndactyly Myopathic facies Curly hair Bruxism Talipes equinovarus Abnormality of the dentition Progressive muscle weakness Polyneuropathy Hernia Hypoplasia of the pons Hypercalciuria Hydroureter Congenital posterior urethral valve Ataxia Intellectual disability, severe Hypertonia Absent speech Elevated serum creatine phosphokinase Cerebellar hypoplasia Muscular dystrophy Inability to walk Hypoglycosylation of alpha-dystroglycan Postnatal growth retardation Gastroesophageal reflux Decreased fetal movement Aganglionic megacolon Abnormal autonomic nervous system physiology Neuroblastoma Breathing dysregulation Central hypoventilation Central sleep apnea Ganglioneuroma Pain Intrauterine growth retardation Respiratory distress Long philtrum Narrow mouth Thin upper lip vermilion Chordee Clitoral hypertrophy Bifid scrotum Rocker bottom foot Femoral bowing Tarsal synostosis Carpal synostosis Abnormality of abdomen morphology Choanal stenosis Abnormality of the endocrine system Labial hypoplasia Cloverleaf skull Humeroradial synostosis Polycystic ovaries Ulnar bowing Bronchomalacia Abnormalities of placenta or umbilical cord Vesicovaginal fistula Low maternal serum estriol Maternal virilization in pregnancy Abnormal facial shape Low-set ears Respiratory insufficiency Hypoplasia of the corpus callosum Dilatation Radioulnar synostosis Laryngomalacia Deeply set eye Absent palmar crease Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Neurological speech impairment Underdeveloped nasal alae Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Dimple chin Prenatal movement abnormality Midface retrusion Arnold-Chiari malformation Abnormality of metabolism/homeostasis Hypospadias Brachycephaly Proptosis Camptodactyly Craniosynostosis Arachnodactyly Choanal atresia Abnormality of the genital system Joint contracture of the hand Hemivertebrae Scrotal hypoplasia Unicornuate uterus


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