Hearing impairment, and Hydronephrosis

Diseases related with Hearing impairment and Hydronephrosis

In the following list you will find some of the most common rare diseases related to Hearing impairment and Hydronephrosis 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

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Other less relevant matches:

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Joint laxity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Seizures Renal dysplasia Vesicoureteral reflux Generalized hypotonia Midface retrusion Nephrocalcinosis Micromelia Chronic kidney disease Growth delay Multicystic kidney dysplasia Micrognathia Ureteropelvic junction obstruction Macrocephaly Hypercalciuria Renal insufficiency

Rare Symptoms - Less than 30% cases

Hypocalcemia Abnormality of the kidney Nystagmus Bilateral sensorineural hearing impairment Proteinuria Hypertension Adrenal hypoplasia Cataract Strabismus Increased susceptibility to fractures Proptosis Osteopenia Narrow chest Blue sclerae Wide anterior fontanel Wormian bones Relative macrocephaly Prominent forehead Shallow orbits Nephrolithiasis Vertebral compression fractures Dentinogenesis imperfecta Malar flattening Respiratory distress High forehead Craniosynostosis Abnormality of the genital system Horseshoe kidney Stage 5 chronic kidney disease Postnatal growth retardation Global developmental delay Round face Unilateral renal agenesis Renal hypoplasia Hyperextensible skin Intrauterine growth retardation Renal agenesis Abnormal facial shape Failure to thrive Low-set ears Depressed nasal bridge Short nose Hypocalcemic seizures Tetany Renal malrotation Delayed speech and language development Anemia Scleral staphyloma Vaginal atresia Optic nerve dysplasia Ovarian cyst Aplasia of the uterus Unilateral deafness Uterus didelphys Abnormality of T cell physiology Unilateral renal dysplasia Proximal renal tubular acidosis Parathyroid hypoplasia Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Mild proteinuria Distal renal tubular acidosis Myalgia Morning glory anomaly Polycystic ovaries Hematuria Ectodermal dysplasia Acidosis Diabetes mellitus Downslanted palpebral fissures Rod-cone dystrophy Abnormal heart morphology Nephrotic syndrome Horizontal nystagmus Ischemic stroke Hyperkinesis Abnormality of the urinary system Cardiomyopathy Severe postnatal growth retardation Ptosis Pain Polycystic kidney dysplasia Psoriasiform dermatitis Progressive sensorineural hearing impairment Muscle weakness Ureterovesical junction obstruction Recurrent pyelonephritis Basal ganglia calcification Macular hyperpigmentation Renal tubular acidosis Stroke Hypoparathyroidism Orbital cyst Severe sensorineural hearing impairment Talipes equinovarus Short clavicles Hypotrichosis Cleft upper lip Ichthyosis Pulmonary hypoplasia Nevus Cyanosis Coarctation of aorta Abnormality of the nail Short ribs Congenital hip dislocation Renal hypoplasia/aplasia Erythroderma Congenital ichthyosiform erythroderma Epiphyseal stippling Erythema Parakeratosis Meningocele Myelomeningocele Hypoplastic scapulae Hypoplastic pelvis Subvalvular aortic stenosis Vertebral hypoplasia Thyroid hypoplasia Single ventricle Aplasia/hypoplasia of the extremities Mild intrauterine growth retardation Aplasia/Hypoplasia involving the central nervous system Parachute mitral valve Elevated 8-dehydrocholesterol Abnormal cardiac septum morphology Umbilical hernia Short neck Bifid uvula Clinodactyly Patent ductus arteriosus Clinodactyly of the 5th finger Narrow mouth Pes planus Thin upper lip vermilion Conductive hearing impairment Broad forehead Synophrys Talipes Thin vermilion border Joint hypermobility Flat face Delayed eruption of teeth Esotropia Hyperkeratosis Dental crowding Finger clinodactyly Patent foramen ovale Mixed hearing impairment Lens luxation Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate Flexion contracture Intellectual disability, mild Abnormality of cardiovascular system morphology Alopecia Bilateral renal hypoplasia Visual impairment Platybasia Breech presentation Congenital adrenal hypoplasia Motor delay Respiratory insufficiency Long philtrum Pectus excavatum Recurrent fractures Rhizomelia Coxa vara Delayed gross motor development Bowing of the legs Delayed cranial suture closure Thoracolumbar scoliosis Bronchiolitis Primary adrenal insufficiency Wide cranial sutures Multiple prenatal fractures Protrusio acetabuli Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Crumpled long bones Externally rotated/abducted legs Hypertelorism High palate Finger syndactyly Metaphyseal cupping Metaphyseal dysplasia Anal atresia CNS hypomyelination Oligohydramnios Hydroureter Congenital posterior urethral valve Microcephaly Spasticity Elevated hepatic transaminase Abnormality of the liver Hepatic failure Hepatic steatosis Full cheeks Cholestasis Decreased liver function Muscular hypotonia Adrenal insufficiency Cryptorchidism Frontal bossing Hypospadias Delayed skeletal maturation Hypogonadism Micropenis Respiratory tract infection Muscular dystrophy Growth hormone deficiency Short long bone Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Toe syndactyly Small hand Pyelonephritis Macular degeneration Hydrocephalus Edema Microphthalmia Glaucoma Reduced visual acuity Coloboma Joint hyperflexibility Confusion Nephropathy Retinal detachment Gliosis Progressive visual loss Abnormality of the genitourinary system Chronic lung disease Nephritis Visual field defect Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Abnormality of the vasculature Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma High-frequency hearing impairment Myopia Broad ribs Short foot Aqueductal stenosis Limitation of joint mobility Intestinal malrotation Choanal atresia Broad thumb Amblyopia Increased intracranial pressure Arnold-Chiari malformation Laryngomalacia Tracheomalacia Stenosis of the external auditory canal Short hallux Broad hallux phalanx Brachyturricephaly Generalized joint laxity Hallux varus Inguinal hernia Platyspondyly Genu valgum Triangular face Limb undergrowth Narrow forehead Abnormal lung morphology Coxa valga Pyloric stenosis High pitched voice Femoral bowing Thin ribs Elevated 8(9)-cholestenol


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