Flexion contracture, and Agenesis of corpus callosum

Diseases related with Flexion contracture and Agenesis of corpus callosum

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

Top matches:

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

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

Other less relevant matches:

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Low-set ears
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

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

Low 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

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

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

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Cerebellar hypoplasia Hydrocephalus Intellectual disability, severe Generalized hypotonia Hyperreflexia Ventriculomegaly Spastic paraplegia Hypertelorism Hemiplegia/hemiparesis Growth delay Hypoplasia of the brainstem Short stature Intrauterine growth retardation Lissencephaly Sloping forehead Aqueductal stenosis Adducted thumb Nystagmus Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Paraparesis Abnormal facial shape Macrotia Micrognathia Short neck Babinski sign Wide nasal bridge Spastic paraparesis Talipes equinovarus Holoprosencephaly Hand clenching Low-set ears Increased intracranial pressure Flexion contracture of thumb Renal agenesis Paraplegia Cognitive impairment Joint stiffness Camptodactyly of finger Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Ophthalmoplegia External ophthalmoplegia Congenital fibrosis of extraocular muscles Severe hydrocephalus Absent septum pellucidum Macrocephaly Hypertonia Coarse facial features Situs inversus totalis Right atrial isomerism Carcinoma Asplenia Dilatation Pulmonary artery atresia Complete atrioventricular canal defect Anomalous pulmonary venous return Heterotaxy Abdominal situs inversus Bilateral trilobed lungs Total anomalous pulmonary venous return Biliary atresia Abnormal pyramidal sign Neoplasm Single ventricle Left atrial isomerism Common atrium Intellectual disability, mild Renal cell carcinoma Decreased head circumference Polyhydramnios Poor speech Bulbous nose Thick vermilion border Cortical gyral simplification Limb hypertonia Cryptorchidism Shuffling gait Hyporeflexia Micropenis Retrognathia Small hand Bilateral cryptorchidism Visceromegaly Oxycephaly Failure to thrive Down-sloping shoulders Clear cell renal cell carcinoma Clinodactyly of the 5th finger Corticospinal tract hypoplasia Noncommunicating hydrocephalus Scoliosis Delayed speech and language development Gait disturbance Polysplenia Kyphosis Pes cavus Hyperactive deep tendon reflexes Abnormality of the nervous system Hyperlordosis Lumbar hyperlordosis Interphalangeal joint contracture of finger Muscle stiffness Aphasia Progressive spasticity Choanal stenosis Poor head control Abnormal lung lobation Nonprogressive restrictive external ophthalmoplegia Wrist flexion contracture Corneal scarring Restrictive external ophthalmoplegia Compensatory chin elevation Superior rectus atrophy Levator palpebrae superioris atrophy Sensory exotropia Exotropia Pain Myopathy Areflexia Respiratory failure Hirsutism Full cheeks Lymphedema Joint contracture of the hand Amblyopia Agyria Spastic diplegia Intellectual disability, moderate Polymicrogyria Polyneuropathy Tetraplegia Optic nerve hypoplasia Congenital contracture Cortical dysplasia Specific learning disability Ptosis Peripheral neuropathy Facial palsy Scarring Abnormality of movement Peripheral axonal neuropathy Esotropia Centrally nucleated skeletal muscle fibers Anteverted nares Atrioventricular canal defect Atrial septal defect Multiple joint contractures Generalized amyotrophy Self-mutilation Profound global developmental delay Hydranencephaly Ventricular septal defect Congestive heart failure Intellectual disability, progressive Abnormality of cardiovascular system morphology Abnormal heart morphology Abnormal cardiac septum morphology Pulmonic stenosis Anal atresia Ambiguous genitalia Dextrocardia Athetosis Knee flexion contracture Abnormality of the kidney Motor delay Bifid uvula Oligohydramnios Renal hypoplasia Rocker bottom foot Vaginal atresia Cerebral hypoplasia Skeletal muscle atrophy Pachygyria Proptosis Prominent nasal bridge Small for gestational age Generalized myoclonic seizures Brain atrophy Spastic tetraplegia Tetraparesis Esodeviation


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