Intellectual disability, and Polyhydramnios

Diseases related with Intellectual disability and Polyhydramnios

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


Top matches:

High match BAMFORTH-LAZARUS SYNDROME


Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS SYNDROME

High match BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B


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

High match NEPHROGENIC DIABETES INSIPIDUS


Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

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Other less relevant matches:

High match VESICOURETERAL REFLUX 3; VUR3


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 3; VUR3

High 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

High match BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A


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

High match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

High match MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17


Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

High match TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

High match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Top 5 symptoms//phenotypes associated to Intellectual disability and Polyhydramnios

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability and Polyhydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Renal insufficiency Dehydration Muscular hypotonia Sensorineural hearing impairment Hypertelorism Small for gestational age Polyuria Muscular hypotonia of the trunk Premature birth

Rare Symptoms - Less than 30% cases


Atrial septal defect Growth delay Hyperchloriduria Fetal polyuria Hypochloremia Hydronephrosis Hyperreflexia Constipation Hypernatriuria Polydipsia Hydroureter Hypoplasia of the corpus callosum Prominent forehead Scoliosis Macrocephaly Ventricular septal defect Increased urinary potassium Hypokalemic hypochloremic metabolic alkalosis Hypokalemic metabolic alkalosis Hyporeflexia Limb hypertonia Curly hair Motor delay Edema Ventriculomegaly Agenesis of corpus callosum Decreased glomerular filtration rate Hypokalemia Hypercalciuria Hyponatremia Hyperaldosteronism Renal salt wasting Alkalosis Metabolic alkalosis Partial agenesis of the corpus callosum Progressive spastic paraplegia Hypoplasia of the brainstem Lissencephaly Optic disc pallor Cortical gyral simplification Decreased head circumference Delayed gross motor development Low-set ears Plagiocephaly Renal agenesis Anteverted nares Sloping forehead Intrauterine growth retardation Thick vermilion border Bulbous nose Poor speech Arthrogryposis multiplex congenita Macrotia Cerebellar hypoplasia Hypertonia Wide nasal bridge Flexion contracture Spasticity Dilation of lateral ventricles Microcephaly Esophoria Abnormal CNS myelination Hydrocephalus Cryptorchidism Hernia Thick lower lip vermilion Posteriorly rotated ears Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pulmonic stenosis Dental malocclusion Webbed neck Wide intermamillary distance Sparse and thin eyebrow Downslanted palpebral fissures Sparse eyebrow Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Blue irides High anterior hairline Short neck Epicanthus Mandibular prognathia Tall stature Coarse facial features Umbilical hernia Blepharophimosis Abnormal cardiac septum morphology Thick eyebrow Round face Overgrowth Narrow palpebral fissure Depressed nasal bridge Deep philtrum Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Delayed myelination Ptosis Esotropia Congenital sensorineural hearing impairment Full cheeks Functional abnormality of the bladder Enuresis nocturna Nocturia Hyposthenuria Megacystis Hypernatremia Unexplained fevers Hypernatremic dehydration Hypovolemia Hypertonic dehydration Intellectual disability, mild Patent ductus arteriosus Scarring Coloboma Iris coloboma Vesicoureteral reflux Nephrogenic diabetes insipidus Pollakisuria Strabismus Bifid epiglottis Hypothyroidism Retrognathia Choanal atresia Congenital hypothyroidism Abnormal hair quantity Bilateral choanal atresia Thyroid agenesis Abnormality of metabolism/homeostasis Diabetes insipidus Feeding difficulties Fever Vomiting Feeding difficulties in infancy Irritability Nausea and vomiting Anorexia Chronic constipation Gastroesophageal reflux Astigmatism Nystagmus Tubulointerstitial fibrosis Hypokalemic alkalosis Mesangial hypercellularity Global glomerulosclerosis Hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Delayed speech and language development Cleft palate Cerebral atrophy Obesity Reduced visual acuity Deeply set eye Spastic paraplegia Hypermetropia Paraplegia Abnormally large globe Glomerulosclerosis Oligohydramnios Ganglioneuroma Decreased fetal movement Aganglionic megacolon Abnormal autonomic nervous system physiology Neuroblastoma Breathing dysregulation Central hypoventilation Central sleep apnea Hearing impairment Nephrocalcinosis Fatigue Protruding ear Stage 5 chronic kidney disease Postural instability Triangular face Nephrolithiasis Hydrops fetalis Pectus excavatum of inferior sternum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Sensory neuropathy, related diseases and genetic alterations Visual impairment and Myopia, related diseases and genetic alterations Failure to thrive and Dolichocephaly, related diseases and genetic alterations Failure to thrive and Elevated hepatic transaminase, related diseases and genetic alterations Failure to thrive and Dysarthria, related diseases and genetic alterations Micrognathia and Polycystic kidney dysplasia, related diseases and genetic alterations

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