Macrocephaly, and Agenesis of corpus callosum

Diseases related with Macrocephaly and Agenesis of corpus callosum

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


Top matches:

High match BAND HETEROTOPIA; BH


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

High match CHUDLEY-MCCULLOUGH SYNDROME


Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

High match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

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Other less relevant matches:

High match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


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

High match COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD


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

High match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

High match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


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

Top 5 symptoms//phenotypes associated to Macrocephaly and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Agenesis of corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Scoliosis Cerebellar hypoplasia Coloboma Low-set ears Strabismus Hearing impairment Sensorineural hearing impairment Abnormal facial shape Microphthalmia Spasticity Nystagmus Holoprosencephaly

Rare Symptoms - Less than 30% cases


Aqueductal stenosis Hemiplegia/hemiparesis Adducted thumb Spastic paraplegia Spastic paraparesis Paraplegia Flexion contracture Cognitive impairment Short stature Short nose Midface retrusion Cataract Anteverted nares Cleft palate Absent nasal septal cartilage Muscle weakness Feeding difficulties Single median maxillary incisor Median cleft lip and palate Hypotelorism Iris coloboma High palate Neoplasm Paraparesis Polyhydramnios Clinodactyly Intellectual disability, severe Polymicrogyria Heterotopia Intellectual disability, mild Dilatation Bilateral sensorineural hearing impairment Partial agenesis of the corpus callosum Hypertelorism Frontal bossing Short neck Malar flattening Pectus excavatum Cleft lip Retinal degeneration Parietal bossing Broad face Panhypopituitarism Bilateral microphthalmos Hypoventilation Reduced visual acuity Glaucoma Midline defect of the nose Semilobar holoprosencephaly Depressed nasal tip Alobar holoprosencephaly Elevated serum creatine phosphokinase Occipital encephalocele Hypoplasia of the premaxilla Hypoplasia of the brainstem Fusion of the left and right thalami Flat nasal alae Bilateral cleft lip and palate Bilateral cleft lip Visual impairment Retinal coloboma Agyria Severe global developmental delay Type II lissencephaly Muscular dystrophy Protruding ear Broad forehead Smooth philtrum Oral cleft Median cleft lip Neonatal hypotonia Highly arched eyebrow Prominent nose Dental malocclusion Abnormally large globe Omphalocele Flat occiput Myopia Downslanted palpebral fissures Single ventricle Thin upper lip vermilion Exotropia Diabetes insipidus Progressive microcephaly Encephalocele Narrow nasal bridge Anterior pituitary agenesis Cerebellar vermis hypoplasia Aplasia of the nose Bifid uvula Hypoplastic philtrum Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Cyclopia Proboscis High myopia Lissencephaly Microcornea Ventricular septal defect Cupped ear Patent ductus arteriosus High forehead Retrognathia Abnormality of the pinna Congenital muscular dystrophy Prominent nasal bridge Poor speech Broad neck Astigmatism Optic nerve coloboma Muscular hypotonia CNS hypomyelination Ptosis Poor head control Arnold-Chiari malformation Respiratory insufficiency due to muscle weakness Constipation Choanal atresia Apnea Macrotia Coarse facial features Osteoarthritis Abnormality of epiphysis morphology Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Carcinoma Genu valgum Joint stiffness Abnormal pyramidal sign Increased intracranial pressure Absent septum pellucidum Renal cell carcinoma Clear cell renal cell carcinoma Flexion contracture of thumb Corticospinal tract hypoplasia Brain atrophy Hip dislocation Delayed speech and language development Arachnoid cyst Abnormality of the skeletal system Behavioral abnormality Sleep disturbance Profound global developmental delay Hypoplasia of the corpus callosum Congenital sensorineural hearing impairment Cortical dysplasia Severe sensorineural hearing impairment Colpocephaly Finger syndactyly Cerebellar dysplasia Prelingual sensorineural hearing impairment Dysplastic corpus callosum Gray matter heterotopias Large foramen magnum Motor delay Obesity Inguinal hernia Pectus carinatum Noncommunicating hydrocephalus Hyperreflexia Upslanted palpebral fissure Optic nerve hypoplasia Dyspnea Irritability Dolichocephaly Delayed myelination Aciduria Postnatal microcephaly Cerebral visual impairment Severe muscular hypotonia Poor suck Dystonia Apathy Stridor Poor eye contact Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Epicanthus Brachydactyly Wide nasal bridge Encephalopathy Respiratory distress Gait disturbance Lumbar hyperlordosis Talipes equinovarus Kyphosis Clinodactyly of the 5th finger Babinski sign Pes cavus Abnormality of the nervous system Hyperlordosis Camptodactyly of finger Interphalangeal joint contracture of finger Respiratory insufficiency Muscle stiffness Aphasia Progressive spasticity Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Hand clenching Severe hydrocephalus Hepatomegaly Cortical cataract



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