Visual impairment, and Macrocephaly

Diseases related with Visual impairment and Macrocephaly

In the following list you will find some of the most common rare diseases related to Visual impairment and Macrocephaly that can help you solving undiagnosed cases.

Top matches:

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Other less relevant matches:

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

SEVERE CANAVAN DISEASE Is also known as neonatal canavan disease|infantile canavan disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CANAVAN DISEASE

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Top 5 symptoms//phenotypes associated to Visual impairment and Macrocephaly

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% 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
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Visual impairment and Macrocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Optic atrophy Overgrowth Microcephaly

Rare Symptoms - Less than 30% cases

Blindness Prominent forehead Ventriculomegaly Abnormal facial shape Feeding difficulties Short stature Cerebellar hypoplasia Amblyopia Absent speech Cerebral visual impairment Encephalopathy Clinodactyly Neoplasm Irritability Facial palsy Headache Hypertelorism Midface retrusion Muscular hypotonia Agenesis of corpus callosum Dystonia Respiratory distress Respiratory insufficiency Abnormal palmar dermatoglyphics Hepatomegaly Erlenmeyer flask deformity of the femurs Dyspnea Muscle weakness Obtundation status Unilateral facial palsy Metaphyseal dysplasia Bilateral facial palsy Small earlobe Dolichocephaly Calvarial osteosclerosis Epileptic spasms Global brain atrophy Asymmetry of the mandible Flat occiput Self-injurious behavior Focal impaired awareness seizure Sandal gap Gingival overgrowth Dental crowding Hypsarrhythmia Epileptic encephalopathy Club-shaped distal femur Apnea Aciduria Delayed myelination Conductive hearing impairment Mixed hearing impairment Misalignment of teeth Osteomyelitis Flared metaphysis Hyperostosis Chronic otitis media Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Tinnitus Otitis media Nasal obstruction Sclerosis of skull base Delayed eruption of teeth Abnormality of the nasopharynx Abnormality of the vertebral column Stridor Cranial nerve compression Postnatal microcephaly Severe muscular hypotonia Optic nerve hypoplasia Poor suck Apathy Poor eye contact Mandibular prognathia Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Developmental regression Sensorineural hearing impairment Wide nasal bridge Inability to walk Hypermetropia Difficulty walking Dysphagia Polymicrogyria Stroke Mental deterioration Dilatation Vomiting Intellectual disability, severe Hydrocephalus Abnormality of visual evoked potentials Coma Sleep disturbance Lethargy EEG abnormality Gastroesophageal reflux Visual loss Spasticity Arnold-Chiari malformation Broad jaw Mild global developmental delay Thickened calvaria Increased intracranial pressure Increased bone mineral density Broad forehead Craniosynostosis High forehead Brachycephaly Visual field defect Plagiocephaly Facial asymmetry Abnormality of eye movement Frontal bossing Spontaneous abortion Communicating hydrocephalus Gait ataxia Accelerated skeletal maturation Cerebral atrophy Behavioral abnormality Abnormality of the basal ganglia Facial diplegia Abnormality of mitochondrial metabolism Hyperkinesis Leukoencephalopathy Brain atrophy Dysmetria Macrotia Hyperactivity Myopia Ataxia Curved fingers Nevus Aqueductal stenosis Full cheeks Astigmatism Talipes Camptodactyly Telecanthus Neonatal hypotonia Kyphoscoliosis Abnormality of the dentition Hypertonia Talipes equinovarus Normal pressure hydrocephalus Intraventricular hemorrhage Hydranencephaly Dilated fourth ventricle Bony paranasal bossing


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