Hydrocephalus, and Spastic paraplegia

Diseases related with Hydrocephalus and Spastic paraplegia

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

Top matches:

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

High match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

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

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Medium match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Spastic paraplegia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Paraplegia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Spastic paraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Spastic paraparesis Paraparesis Hyperreflexia Nystagmus Hearing impairment Hypertonia Short stature Hemiplegia/hemiparesis Ataxia Agenesis of corpus callosum Intellectual disability, severe Babinski sign Microcephaly Gait disturbance Anemia Strabismus Aqueductal stenosis Scoliosis Cataract Adducted thumb Talipes equinovarus Peripheral neuropathy Coarse facial features Pes cavus Flexion contracture Cognitive impairment Cryptorchidism Neurodegeneration

Rare Symptoms - Less than 30% cases

Protruding ear Peripheral demyelination Ankle clonus Muscle weakness Muscular hypotonia of the trunk Absent speech Motor delay Intellectual disability, mild Sensorineural hearing impairment Bilateral cryptorchidism Macrotia Clonus Fever Increased CSF protein Tremor Areflexia Vomiting Aphasia Weight loss Diarrhea Hypertelorism Progressive spasticity Hyperkalemia Hyperactive deep tendon reflexes Hyporeflexia Kyphosis Developmental regression Ventriculomegaly Muscular hypotonia Optic atrophy Mental deterioration Abnormality of the cerebral white matter Coma Hypergonadotropic hypogonadism Tetraplegia Spastic tetraplegia Hemiplegia Behavioral abnormality Neoplasm Visual impairment Joint stiffness Dilatation Increased intracranial pressure Holoprosencephaly Abnormal pyramidal sign Absent septum pellucidum Flexion contracture of thumb Aplasia/Hypoplasia of the abdominal wall musculature CNS demyelination Abnormal facial shape Decerebrate rigidity Unexplained fevers Cloverleaf skull Abnormal flash visual evoked potentials Micrognathia Demyelinating peripheral neuropathy Abnormal nerve conduction velocity Sensory neuropathy Ptosis Motor deterioration Aspiration pneumonia Skeletal muscle atrophy Downslanted palpebral fissures Abnormality of the skeletal system Pallor Anteverted nares Adrenal hypoplasia Shawl scrotum Hypoplasia of the corpus callosum EEG abnormality Petechiae Rigidity Myopathy Abnormality of the thumb Overlapping fingers Diffuse cerebral atrophy Sensorimotor neuropathy Brain atrophy Optic disc pallor Tetraparesis Falls Recurrent respiratory infections Visual loss Frequent falls Progressive muscle weakness Abnormality of metabolism/homeostasis Reduced visual acuity Blindness Leukodystrophy Feeding difficulties Failure to thrive Horizontal nystagmus Generalized myoclonic seizures Hypoplastic spleen EMG abnormality Spastic tetraparesis CNS hypomyelination Decreased nerve conduction velocity Radial club hand Postural tremor Irritability Global brain atrophy Microphallus Opisthotonus Achalasia Episodic fever Autoimmune thrombocytopenia Esophageal stricture Nevus Malar flattening Congenital hypothyroidism Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Sparse body hair Progressive gait ataxia Basal ganglia calcification Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Melanocytic nevus Self-injurious behavior Thoracic kyphosis Broad face Abnormal palate morphology Absent axillary hair Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Posterior polar cataract Dystrophic fingernails Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Schizophrenia Plagiocephaly Microphthalmia Narrow mouth Prominent nasal bridge Aggressive behavior Conductive hearing impairment Deeply set eye Osteopenia Hypothyroidism Autism Congenital cataract Gait ataxia Brachycephaly Diabetes mellitus Hypogonadism Osteoporosis Pectus excavatum Midface retrusion Broad forehead Synophrys Osteolysis Cerebral calcification Knee flexion contracture Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Bradykinesia Hip dysplasia Narrow chest Otitis media Rocker bottom foot Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Genu valgum Adrenal insufficiency Axonal degeneration Hyponatremia Neonatal hypotonia Thick vermilion border Bulbous nose Talipes Short philtrum Wide mouth Apnea Wide nasal bridge Prominent nose High palate Esodeviation Oxycephaly Visceromegaly Small hand Retrognathia Highly arched eyebrow Focal-onset seizure Short neck Splenomegaly Hyperbilirubinemia Delayed myelination Hemolytic anemia Inability to walk Hepatosplenomegaly Jaundice Brachydactyly Febrile seizures Hepatomegaly Simple febrile seizures Loss of ability to walk Facial hypotonia Spastic diplegia Cerebral palsy Micropenis Severe hydrocephalus Conjugated hyperbilirubinemia Heterotopia Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Leukoencephalopathy Lissencephaly Absence seizures Encephalocele Type II lissencephaly Progressive neurologic deterioration Abnormal cerebellum morphology Polymicrogyria Severe global developmental delay Muscular dystrophy Cerebellar hypoplasia Porencephalic cyst Gray matter heterotopias Hand clenching Hyperlordosis Shuffling gait Down-sloping shoulders Muscle stiffness Interphalangeal joint contracture of finger Lumbar hyperlordosis Camptodactyly of finger Abnormality of the nervous system Right hemiplegia Clinodactyly of the 5th finger Delayed speech and language development Noncommunicating hydrocephalus Corticospinal tract hypoplasia Clear cell renal cell carcinoma Renal cell carcinoma Carcinoma Broad neck Stomatocytosis Myelodysplasia Abnormal renal physiology Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Myelopathy Intrauterine growth retardation Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Syringomyelia Amyloidosis Amyloid deposition in the vitreous humor Thrombocytopenia Orthostatic hypotension Hyperpigmentation of the skin Intracranial hemorrhage Abnormal intestine morphology Leukopenia Recurrent bacterial infections Meningitis Lymphopenia Chronic diarrhea Hypospadias Decreased body weight Recurrent urinary tract infections Decreased testicular size Sepsis Hypoglycemia Gastroesophageal reflux Patent ductus arteriosus Decreased number of peripheral myelinated nerve fibers Malnutrition Hemoglobinuria Headache Malabsorption Facial palsy Arthritis Dementia Constipation Arrhythmia Renal insufficiency Peripheral axonal neuropathy Congestive heart failure Cardiomyopathy Dysarthria Pain Hypoglycorrhachia Zonular cataract Paresthesia Nephropathy Impotence Hallucinations Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Abnormal autonomic nervous system physiology Vasculitis Hemiparesis Polyneuropathy Cardiomegaly Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Hypotension Migraine Urinary incontinence Gliosis Superiorly displaced ears


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