Flexion contracture, and Lissencephaly

Diseases related with Flexion contracture and Lissencephaly

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

Top matches:

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

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 muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Other less relevant matches:

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

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

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

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

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

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Top 5 symptoms//phenotypes associated to Flexion contracture and Lissencephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Lissencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Congenital muscular dystrophy Spasticity Agenesis of corpus callosum Hypoplasia of the brainstem Abnormality of the cerebral white matter Pachygyria Seizures Cerebellar cyst EMG: myopathic abnormalities Achilles tendon contracture Cerebellar atrophy Motor delay Elevated serum creatine phosphokinase Muscular dystrophy Sloping forehead Short stature Arthrogryposis multiplex congenita Abnormal facial shape Feeding difficulties

Rare Symptoms - Less than 30% cases

Heterotopia Difficulty walking Hypoplasia of the pons Myalgia Intellectual disability, moderate Muscle cramps Generalized muscle weakness Hydranencephaly Frequent falls Hyperreflexia Proximal amyotrophy Failure to thrive Myopia Hydrocephalus Dilatation Areflexia Toe walking Neonatal hypotonia Macrotia Macroglossia Proximal muscle weakness Nystagmus Strabismus Hypoplasia of the corpus callosum Intellectual disability, severe Muscular hypotonia of the trunk Polymicrogyria Facial palsy Hypertelorism Intellectual disability, profound Lower limb muscle weakness Wide nasal bridge Bulbous nose Muscular hypotonia Poor speech Babinski sign Abnormal electroretinogram Gowers sign Polyhydramnios Horizontal nystagmus Hypertonia Intrauterine growth retardation Joint contracture of the hand Open mouth Waddling gait Mild myopia Skeletal muscle hypertrophy Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the periventricular white matter Elbow flexion contracture Lower limb hyperreflexia Myopathic facies Limb muscle weakness Abnormality of neuronal migration Growth delay Low-set ears Thick vermilion border Calf muscle hypertrophy Scoliosis Intellectual disability, mild Kyphosis Feeding difficulties in infancy Hyperlordosis Delayed gross motor development Difficulty climbing stairs Giant cell hepatitis Vertebral fusion Absent septum pellucidum Shoulder girdle muscle weakness Restrictive deficit on pulmonary function testing Shoulder girdle muscle atrophy Thigh hypertrophy Talipes calcaneovalgus Nephrogenic diabetes insipidus Renal agenesis Elevated hepatic transaminase Cortical gyral simplification Limb hypertonia Decreased head circumference Profound global developmental delay Ventricular septal defect Jaundice Ichthyosis Cholestatic liver disease Nephropathy Metabolic acidosis Hip dysplasia Nephrocalcinosis Renal tubular acidosis Right ventricular hypertrophy Conjugated hyperbilirubinemia Severe hydrocephalus Prominent nasal bridge Self-mutilation Short palpebral fissure Cataract Reduced muscle fiber alpha dystroglycan Fatty replacement of skeletal muscle Limb-girdle muscle atrophy Dysarthria Tremor Facial diplegia Mildly elevated creatine phosphokinase Dystonia EEG abnormality Rigidity Kyphoscoliosis Wide mouth Triangular face Congenital fibrosis of extraocular muscles Delayed speech and language development Cortical dysplasia Spastic diplegia Lower limb spasticity Congenital contracture Optic nerve hypoplasia External ophthalmoplegia Tetraplegia Polyneuropathy Ophthalmoplegia Infantile spasms Limb dystonia Focal dystonia Cogwheel rigidity Grasp reflex Optic atrophy Dandy-Walker malformation Generalized amyotrophy Agyria Multiple joint contractures Athetosis Poor head control Intellectual disability, progressive Knee flexion contracture Tetraparesis Spastic tetraplegia Brain atrophy Generalized myoclonic seizures Small for gestational age Stuttering Proptosis Talipes equinovarus Skeletal muscle atrophy Hand clenching Severe muscular hypotonia Centrally nucleated skeletal muscle fibers Lymphedema Full cheeks Hirsutism Cognitive impairment Respiratory failure Myopathy Short neck Pain Micrognathia Frontoparietal polymicrogyria Diffuse white matter abnormalities Type II lissencephaly Retinal dysplasia Hypertrophy of the lower limb


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