Hydrocephalus, and Neonatal hypotonia

Diseases related with Hydrocephalus and Neonatal hypotonia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Neonatal hypotonia that can help you solving undiagnosed cases.

Top matches:

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Other less relevant matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Neonatal hypotonia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Neonatal hypotonia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Visual impairment Hypoplasia of the brainstem Encephalocele Agenesis of corpus callosum Cataract Intellectual disability, severe Microphthalmia Muscular dystrophy Muscle weakness Myopia Macrocephaly Hearing impairment Type II lissencephaly Elevated serum creatine phosphokinase Abnormality of the cerebral white matter Optic atrophy Cerebellar hypoplasia High palate Short stature Flexion contracture Glaucoma Congenital muscular dystrophy Lissencephaly Atrial septal defect Coloboma Severe global developmental delay Retinal degeneration Hypertelorism Cerebellar vermis hypoplasia Motor delay Spasticity Feeding difficulties Hyperreflexia Scoliosis Sensorineural hearing impairment Polymicrogyria Buphthalmos Aplasia/Hypoplasia of the corpus callosum Wide nasal bridge Cerebellar dysplasia Apnea Cerebellar cyst Pachygyria Intellectual disability, profound Ataxia Congenital cataract Dolichocephaly Dilatation Growth delay Nystagmus

Rare Symptoms - Less than 30% cases

Hepatomegaly Triangular face Cerebral atrophy Hypoplasia of the corpus callosum Patent ductus arteriosus Intellectual disability, mild Myoclonus Weak cry Epicanthus Hypoplasia of the pons Delayed speech and language development Peripheral demyelination Low-set ears Smooth philtrum Camptodactyly of finger Abnormality of the pinna Respiratory distress Anteverted nares Abnormality of the skeletal system Intrauterine growth retardation Abnormal facial shape External genital hypoplasia Patent foramen ovale Abnormal cerebellum morphology Frontal bossing Depressed nasal bridge Failure to thrive CNS demyelination Hypoglycosylation of alpha-dystroglycan Retinal dysplasia Cortical dysplasia Holoprosencephaly EMG abnormality Generalized muscle weakness Abnormality of the periventricular white matter EEG abnormality Malar flattening Plagiocephaly Myopathy Gait disturbance Micrognathia Retinal atrophy Strabismus Spinal rigidity High myopia Cleft palate Coarse facial features Spastic diplegia Prominent nose Respiratory insufficiency Hypertonia Hypermetropia Congenital glaucoma Severe muscular hypotonia Wide mouth Skeletal muscle hypertrophy Agyria Pes planus Thin upper lip vermilion Joint laxity Facial asymmetry Low-set, posteriorly rotated ears Upslanted palpebral fissure Clinodactyly of the 5th finger Abnormality of the eye Abnormal heart morphology Babinski sign Mitral valve prolapse Absent speech Small hand Full cheeks Interphalangeal joint contracture of finger Short palpebral fissure Abnormality of vision Redundant skin Rocker bottom foot Tricuspid regurgitation Mild short stature Thoracic hypoplasia Anteriorly placed anus Shallow orbits Abnormality of cardiovascular system morphology Ventricular septal defect Long philtrum Abnormality of ocular smooth pursuit Nephronophthisis Acute kidney injury Congenital blindness Impaired smooth pursuit Optic nerve coloboma Central apnea Agenesis of cerebellar vermis Abnormal renal physiology Abnormal corpus callosum morphology Rotary nystagmus Accessory oral frenulum Abnormal saccadic eye movements Metopic synostosis Hypoplastic male external genitalia Short nose Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Thickened superior cerebellar peduncle Enlarged fossa interpeduncularis Noncommunicating hydrocephalus Paraplegia Spastic paraplegia Downslanted palpebral fissures Short philtrum Secundum atrial septal defect Muscular hypotonia of the trunk Ventricular extrasystoles Pectus excavatum Abnormality of nervous system morphology Leukodystrophy Hepatosplenomegaly Mental deterioration Developmental regression Joint stiffness Skin rash Corneal opacity Dysmetria Ichthyosis Flat face Thick eyebrow Neurodegeneration Progressive neurologic deterioration Broad thumb Abnormality of retinal pigmentation Coarse hair Splenomegaly Broad hallux Lower limb hyperreflexia Increased CSF protein Dysostosis multiplex Large forehead Developmental stagnation Broad hallux phalanx Olivopontocerebellar atrophy Periorbital edema Abnormality of peripheral nerve conduction Mucopolysacchariduria Hypoplastic vertebral bodies Retrocerebellar cyst Urinary glycosaminoglycan excretion Prominent forehead Cerebellar atrophy Talipes equinovarus Hemivertebrae Skeletal muscle atrophy Molar tooth sign on MRI Areflexia Brachycephaly Rigidity Hip dislocation Dilated cardiomyopathy Arthrogryposis multiplex congenita Pulmonic stenosis Retinal detachment Brain atrophy Preauricular skin tag Bradycardia Congenital hip dislocation Knee flexion contracture Dysphagia Mask-like facies Increased variability in muscle fiber diameter Calf muscle hypertrophy Multiple joint contractures Generalized amyotrophy Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Myocardial fibrosis Exaggerated startle response Thoracic hemivertebrae Cephalocele Hypoplasia of the pyramidal tract Talipes Renal dysplasia Chorioretinal coloboma Recurrent singultus Poor suck Impulsivity Infantile spasms Cortical cataract Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Pill-rolling tremor Limb ataxia Retinal coloboma Abnormally large globe Hypoventilation Occipital encephalocele Elevated hepatic transaminase Hepatic failure CNS hypomyelination Sepsis Poor head control Decreased fetal movement Decreased body weight Wide anterior fontanel Hyperbilirubinemia Leukopenia Choreoathetosis Central hypotonia Visual loss Congenital contracture Peters anomaly Heterotopia Persistent pupillary membrane Moderate myopia Macroglossia Cleft upper lip Hypertension Cleft lip Vomiting Behavioral abnormality Thrombocytopenia Encephalopathy Hyporeflexia Hypsarrhythmia Hyperactivity Autism Acidosis Abnormality of the nervous system Aggressive behavior Intellectual disability, moderate Irritability Autistic behavior Attention deficit hyperactivity disorder Lethargy Neutropenia Coma Chorea Aciduria Cholelithiasis Scaphocephaly Bulbous nose Camptodactyly Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Spastic tetraplegia Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Febrile seizures Focal-onset seizure Tetraplegia Blindness Renal insufficiency Polydactyly Craniosynostosis Meningocele Retinopathy Highly arched eyebrow Abnormality of the foot Postaxial polydactyly Retinal dystrophy Renal cyst Thick vermilion border Esotropia Dandy-Walker malformation Postaxial hand polydactyly Apraxia Hepatic fibrosis Oculomotor apraxia Abnormal electroretinogram Cerebral palsy Megalocornea Double outlet right ventricle Poor speech Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness Arnold-Chiari malformation Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Respiratory insufficiency due to muscle weakness Progressive microcephaly Cognitive impairment Bilateral sensorineural hearing impairment Polyhydramnios Hemiplegia/hemiparesis Midface retrusion Reduced visual acuity Pallor Neurological speech impairment Abnormality of movement Everted lower lip vermilion Simple febrile seizures Loss of ability to walk Opacification of the corneal stroma Facial hypotonia Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Aplasia/Hypoplasia of the cerebellum Rapid neurologic deterioration


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