Hearing impairment, and Polyhydramnios

Diseases related with Hearing impairment and Polyhydramnios

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

Top matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

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

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Other less relevant matches:

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

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Small for gestational age Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Edema Hyperaldosteronism Increased urinary potassium Hypokalemic metabolic alkalosis Generalized hypotonia Metabolic alkalosis Alkalosis Renal salt wasting Polyuria Hypercalciuria Hypokalemia Hyperchloriduria Premature birth Muscular hypotonia Dehydration Hypokalemic alkalosis Global developmental delay Atrial septal defect Gastroesophageal reflux Scoliosis Strabismus Nephrocalcinosis Hypochloremia Fetal polyuria Renal insufficiency

Rare Symptoms - Less than 30% cases

Hypokalemic hypochloremic metabolic alkalosis Macrocephaly Talipes equinovarus Hyporeflexia Respiratory insufficiency Agenesis of corpus callosum Vomiting Narrow mouth Hydrocephalus Ventriculomegaly Fever Generalized muscle weakness Muscle cramps Micrognathia Hypercalcemia Hypomagnesemia Chondrocalcinosis Increased circulating renin level Motor delay Growth delay Joint stiffness Renal potassium wasting Hyperactive renin-angiotensin system Abnormal facial shape Downslanted palpebral fissures Hyponatremia Hydrops fetalis Hypernatriuria Oligohydramnios Decreased glomerular filtration rate Protruding ear Stage 5 chronic kidney disease Triangular face Prominent forehead Abnormally large globe Spherocytosis Webbed neck Diabetes insipidus Hyperparathyroidism Cupped ear Lymphedema Tetany Parathyroid adenoma Parathyroid hyperplasia Cellulitis Nephrogenic diabetes insipidus Hyposthenuria Ascites Hemolytic anemia Hypothyroidism Intestinal lymphangiectasia Stomatocytosis Pericardial effusion Facial edema Generalized edema Pectus excavatum Genital edema Nonimmune hydrops fetalis Hyperprostaglandinuria Pulmonary lymphangiectasia Varicose veins Prune belly Diarrhea Deep venous thrombosis Constipation Hydrocele testis Periorbital edema Chylothorax Weight loss Osteopenia Paresthesia Increased serum prostaglandin E2 Impaired reabsorption of chloride Low-to-normal blood pressure Bowing of the long bones Skeletal dysplasia Abnormality of the kidney Platyspondyly Narrow chest Micromelia Flat face Intellectual disability, profound Split hand Abnormality of the metaphysis Heterotopia Wide anterior fontanel Patent ductus arteriosus Acanthosis nigricans Redundant skin Femoral bowing Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Cloverleaf skull Excessive wrinkled skin Increased nuchal translucency Short sacroiliac notch Abnormality of the sacroiliac joint Proptosis Kyphosis Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperkalemia Pain Hypertension Arthritis Tachycardia Chest pain Growth hormone deficiency Hypotension Anorexia Hypocalcemia Glomerulonephritis Rickets Polycythemia Frontal bossing Hyperphosphatemia Abnormality of the retinal vasculature Respiratory arrest Hypocalciuria Abnormal choroid morphology Azotemia Abnormal sclera morphology Secondary hyperaldosteronism Abnormality of prostaglandin metabolism Depressed nasal bridge Brachydactyly Splenomegaly Cerebellar hypoplasia Epicanthus Transposition of the great arteries Abnormality of the eye Anal atresia Pulmonary hypoplasia Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Abnormality of the outer ear Atresia of the external auditory canal Tracheomalacia Retrognathia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Synotia Conductive hearing impairment Posteriorly rotated ears Cryptorchidism Postural instability Abnormality of metabolism/homeostasis Decreased fetal movement Aganglionic megacolon Abnormal autonomic nervous system physiology Neuroblastoma Breathing dysregulation Central hypoventilation Central sleep apnea Ganglioneuroma Fatigue Nephrolithiasis Abnormal heart morphology Glomerulosclerosis Polydipsia Congenital sensorineural hearing impairment Tubulointerstitial fibrosis Mesangial hypercellularity Global glomerulosclerosis Hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Cleft palate Low-set ears Respiratory distress Hypertelorism Ptosis Anemia Respiratory insufficiency due to muscle weakness Muscular dystrophy Severe global developmental delay Poor speech Retinal degeneration Bilateral sensorineural hearing impairment High myopia Cerebellar vermis hypoplasia Encephalocele Progressive microcephaly Lissencephaly Arnold-Chiari malformation Neonatal hypotonia Poor head control CNS hypomyelination Congenital muscular dystrophy Hypoplasia of the brainstem Occipital encephalocele Hypoventilation Retinal coloboma Type II lissencephaly Agyria Cortical cataract Coloboma Reduced visual acuity Wide nasal bridge Ulnar deviation of finger Abnormality of the dentition Long philtrum Hernia Deeply set eye Feeding difficulties in infancy Camptodactyly of finger Neurological speech impairment Underdeveloped nasal alae Depressed nasal ridge Nasal speech Malignant hyperthermia Glaucoma Dimple chin Prenatal movement abnormality Absent palmar crease Microcephaly Muscle weakness Cataract Flexion contracture Feeding difficulties Myopia Microphthalmia Elevated serum creatine phosphokinase Lethal short-limbed short stature


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