Global developmental delay, and Hydronephrosis

Diseases related with Global developmental delay and Hydronephrosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Hydronephrosis that can help you solving undiagnosed cases.

Top matches:

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

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

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

Other less relevant matches:

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. 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 Buysse 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, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEBB-DATTANI SYNDROME; WEDAS

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Hydronephrosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Hypoplasia of the corpus callosum Blindness Growth delay Delayed myelination Cryptorchidism Cleft palate

Rare Symptoms - Less than 30% cases

Hypernatremia Ptosis Patent ductus arteriosus Scarring Vesicoureteral reflux Abnormal facial shape Visual impairment Multicystic kidney dysplasia Strabismus Polyhydramnios Hydroureter Short stature Congenital cataract Gastroesophageal reflux Diabetes insipidus Cataract Constipation Type II lissencephaly Absent septum pellucidum Occipital encephalocele Anencephaly Retinal dysplasia Muscular dystrophy Calcinosis Renal cortical cysts High palate Brachydactyly Ventricular septal defect Atrial septal defect Finger syndactyly Optic nerve dysplasia Cortical dysplasia Cognitive impairment Micropenis Dandy-Walker malformation Decreased testicular size Encephalocele Heterotopia Opacification of the corneal stroma Severe muscular hypotonia Agenesis of corpus callosum Renal cyst Lissencephaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Hydrocephalus Congenital muscular dystrophy Hypoplasia of the brainstem Renal dysplasia Tarsal synostosis Anal atresia Dilatation Neurogenic bladder Central hypothyroidism Scoliosis Hypertelorism Epicanthus Downslanted palpebral fissures Ventriculomegaly Kyphosis Hypospadias Cerebral palsy Sparse hair Abnormal cardiac septum morphology Short philtrum Everted lower lip vermilion Microcornea Nevus Tented upper lip vermilion Sparse eyebrow Pituitary hypothyroidism Postnatal microcephaly Tetralogy of Fallot Urogenital sinus anomaly Postaxial hand polydactyly Aganglionic megacolon Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Nephrocalcinosis Postaxial foot polydactyly Ectopic anus Urethral stricture Growth hormone deficiency Hydrometrocolpos Glandular hypospadias Prominent forehead Hypothyroidism Retrognathia Hypoglycemia Deeply set eye Hip dislocation Severe global developmental delay Poor head control Cone/cone-rod dystrophy Aminoaciduria Hearing impairment Hypernatremic dehydration Hypertonic dehydration Intellectual disability, mild Muscular hypotonia of the trunk Coloboma Iris coloboma Chronic constipation Sensorineural hearing impairment Unexplained fevers Intrauterine growth retardation Elevated hepatic transaminase Joint laxity Postnatal growth retardation Abnormality of the liver Hepatic failure Hepatic steatosis Functional abnormality of the bladder Megacystis Round face Dehydration Feeding difficulties Fever Vomiting Renal insufficiency Feeding difficulties in infancy Irritability Nausea and vomiting Anorexia Hyposthenuria Polydipsia Polyuria Pollakisuria Hypovolemia Nephrogenic diabetes insipidus Enuresis nocturna Nocturia Full cheeks Cholestasis Nephrolithiasis Molar tooth sign on MRI Nyctalopia Highly arched eyebrow Progressive visual loss Apraxia Cerebellar vermis hypoplasia Recurrent urinary tract infections Oculomotor apraxia Hypertension Rod-cone dystrophy Optic atrophy Dysphagia Absent speech Hyporeflexia Abnormality of the cerebral white matter Inability to walk Renal hypoplasia Telecanthus Anteverted nares Decreased liver function Autistic behavior CNS hypomyelination Hyperextensible skin Nystagmus Hypertonia Hyperactivity Autism EEG abnormality Attention deficit hyperactivity disorder Depressed nasal bridge Polymicrogyria Hypsarrhythmia Cerebral visual impairment Limb hypertonia Impaired smooth pursuit Ataxia Low-set ears Nevus flammeus


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