Abnormal facial shape, and Agenesis of corpus callosum

Diseases related with Abnormal facial shape and Agenesis of corpus callosum

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


Top matches:

Medium match OROFACIODIGITAL SYNDROME XV; OFD15


OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

Medium 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

Medium match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Medium match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Medium match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Medium 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Partial agenesis of the corpus callosum Hypoplasia of the corpus callosum Lissencephaly Cerebellar hypoplasia Severe global developmental delay Nystagmus Molar tooth sign on MRI Intellectual disability, mild Heterotopia Motor delay Spasticity Hydrocephalus

Rare Symptoms - Less than 30% cases


Sloping forehead Hyperreflexia Hypertelorism Pachygyria Limb hypertonia Lymphedema Full cheeks Astigmatism Polyhydramnios Low-set ears Obesity Agyria Dilation of lateral ventricles Short neck Muscular hypotonia of the trunk Macrocephaly Polymicrogyria Brain atrophy Spastic paraplegia Deeply set eye Osteoarthritis Reduced visual acuity Abnormality of epiphysis morphology Prominent forehead Joint dislocation Cerebral atrophy Delayed speech and language development Epiphyseal dysplasia Generalized hypotonia Paraplegia Subependymal nodules Type I lissencephaly Multiple epiphyseal dysplasia Microphallus Abnormality of neuronal migration Spontaneous abortion Intellectual disability, profound Narrow forehead Bulbous nose Postnatal growth retardation Hypermetropia Centrally nucleated skeletal muscle fibers Genu valgum Inguinal hernia Arthrogryposis multiplex congenita Respiratory failure Areflexia Hand clenching Frontal bossing Myopathy Malar flattening Pectus excavatum Micropenis Clinodactyly Pain Hirsutism Pectus carinatum Finger syndactyly Micrognathia Esophoria Abnormal CNS myelination Progressive spastic paraplegia Delayed gross motor development Hip dislocation Plagiocephaly Optic disc pallor Esotropia Delayed myelination Elevated hepatic transaminase Dysarthria Cortical dysplasia Muscle weakness Cortical gyral simplification Hypertonia Cognitive impairment Large foramen magnum Gray matter heterotopias Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Arachnoid cyst Severe sensorineural hearing impairment Congenital sensorineural hearing impairment Aganglionic megacolon Bilateral sensorineural hearing impairment Dilatation Sensorineural hearing impairment Hearing impairment Lobulated tongue Broad hallux Postaxial polydactyly Flat face Hydronephrosis Polydactyly Anteverted nares Wide nasal bridge Absent speech Adducted thumb Ptosis Acidosis Growth delay Ataxia Redundant neck skin Hypokinesia Redundant skin Increased serum lactate Metabolic acidosis Lactic acidosis Lethargy Small for gestational age Feeding difficulties in infancy Neonatal hypotonia Patent ductus arteriosus Inferior vermis hypoplasia Edema Brachydactyly Hepatic fibrosis Encephalocele Cerebellar vermis hypoplasia Retinal dystrophy Abnormality of eye movement Coloboma Abnormality of the eye Intellectual disability, moderate Hepatosplenomegaly Rod-cone dystrophy Cataract Enlarged joints



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopathy and Abnormality of the skeletal system, related diseases and genetic alterations Low-set ears and Arthralgia, related diseases and genetic alterations Spasticity and Colon cancer, related diseases and genetic alterations Strabismus and Cerebral atrophy, related diseases and genetic alterations Sensorineural hearing impairment and Short foot, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more