Hydrocephalus, and Optic atrophy

Diseases related with Hydrocephalus and Optic atrophy

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Optic atrophy 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

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' (Godfrey et al., 2007).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, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Other less relevant matches:

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

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

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Top 5 symptoms//phenotypes associated to Hydrocephalus and Optic atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Optic atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Ventriculomegaly Microcephaly Muscular hypotonia Polymicrogyria Osteopetrosis Hepatosplenomegaly Failure to thrive Irritability Anemia Feeding difficulties Frontal bossing Severe global developmental delay Hearing impairment

Rare Symptoms - Less than 30% cases

Spasticity Mandibular prognathia Bone marrow hypocellularity Cataract Intellectual disability, profound Extramedullary hematopoiesis Arnold-Chiari malformation Cranial hyperostosis Hyperactivity Coarse facial features Hyperreflexia Hypoplasia of the corpus callosum Myoclonus Vomiting Encephalopathy Facial palsy Hypertonia Leukopenia Brain atrophy Dandy-Walker malformation Myopia Ataxia Gait disturbance Cerebellar hypoplasia Muscular dystrophy Abnormality of the cerebral white matter Coma Tetraplegia Spastic tetraplegia Visual impairment Blindness Increased bone mineral density Lissencephaly Muscular hypotonia of the trunk Short stature Infantile spasms Type II lissencephaly Diaphyseal sclerosis Numerous pigmented freckles Increased density of long bones Uncontrolled eye movements Increased head circumference Motor delay Hypocalcemia Arteriosclerosis Short femoral neck Pancytopenia Squamous cell carcinoma of the skin Recurrent fractures Abnormality of amino acid metabolism Osteomyelitis Coxa vara Short chin Mandibular osteomyelitis Triangular face Facial paralysis Genu valgum Prominent forehead Splenomegaly Persistence of primary teeth Hepatomegaly Strabismus Carious teeth Chronic rhinitis due to narrow nasal airway Abnormality of the dentition Neonatal hypotonia Hypertension Pill-rolling tremor Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Cerebral atrophy Weak cry Abnormality of metabolism/homeostasis Proptosis Craniosynostosis Abnormality of skin pigmentation Hepatic failure Pathologic fracture Severe vision loss Arnold-Chiari type I malformation Generalized osteosclerosis Absence of renal corticomedullary differentiation Restlessness Spastic diplegia Intellectual disability, severe Intellectual disability, moderate Behavioral abnormality Intellectual disability, mild Visual loss Hyporeflexia Agenesis of corpus callosum Autism Acidosis Poikiloderma Abnormality of the nervous system Aggressive behavior Apnea Impulsivity Autistic behavior Attention deficit hyperactivity disorder Lethargy Neutropenia Chorea Aciduria Hypsarrhythmia Choreoathetosis Limb ataxia Poor suck Demyelinating peripheral neuropathy Nevus flammeus Prematurely aged appearance Psychosis Diffuse white matter abnormalities Frontoparietal polymicrogyria Abnormal facial shape Cognitive impairment Delayed speech and language development Depressivity Broad forehead Dolichocephaly Astigmatism Pointed chin Hypoplasia of the pons Celiac disease Abnormality of the musculature Scaphocephaly Patellar dislocation Megalencephaly Patellar subluxation Cortical tubers Adrenal medullary hypoplasia Absent speech Cerebellar cyst Retinal dysplasia EEG abnormality Leukoencephalopathy Mental deterioration Spastic paraplegia Paraplegia Neurodegeneration Abnormal cerebellum morphology Progressive neurologic deterioration Encephalocele Heterotopia Absence seizures Hemiplegia Congenital muscular dystrophy Hypoplasia of the brainstem Occipital encephalocele Porencephalic cyst Gray matter heterotopias Right hemiplegia Flexion contracture Dilatation Areflexia Elevated serum creatine phosphokinase Severe muscular hypotonia Macrotia Anxiety Basal cell carcinoma Dysarthria Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Nystagmus Retinopathy Aplasia/Hypoplasia of the cerebellum Skin rash Dry skin Confusion Cutaneous photosensitivity Diplopia Melanoma Cachexia Dermal atrophy Urticaria Cutis marmorata Hand polydactyly Short philtrum Fusion of the left and right thalami Everted lower lip vermilion Prominent nose Epileptic encephalopathy Cerebral calcification Hypotelorism Open mouth Long eyelashes Holoprosencephaly Thick upper lip vermilion Neoplasm Full cheeks Depressed nasal bridge Abnormality of cardiovascular system morphology Arrhythmia High forehead Deeply set eye Wide mouth Finger syndactyly Toe syndactyly Facial asymmetry Joint hyperflexibility Decreased osteoclast count


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