Flexion contracture, and Severe global developmental delay

Diseases related with Flexion contracture and Severe global developmental delay

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

Top matches:

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Low match MPDU1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Top 5 symptoms//phenotypes associated to Flexion contracture and Severe global developmental delay

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Visual impairment Cerebral atrophy Arthrogryposis multiplex congenita Gliosis Generalized hypotonia Absent speech Intellectual disability Growth delay Small for gestational age Muscular hypotonia of the trunk Optic atrophy Neuronal loss in central nervous system Cerebellar hypoplasia Cerebellar atrophy Myoclonus Hypertonia

Rare Symptoms - Less than 30% cases

Spastic paraparesis Hyperreflexia Encephalopathy Ataxia Chorea Abnormality of the foot Cerebral visual impairment Paraparesis Sloping forehead Brain atrophy Talipes equinovarus Polyhydramnios Ventriculomegaly Dystonia Short stature Hypoplasia of the pons Hypoplasia of the brainstem Camptodactyly of finger Feeding difficulties in infancy Clonus Interphalangeal joint contracture of finger Feeding difficulties Progressive spastic paraparesis Micrognathia Cataract Intrauterine growth retardation Low-set, posteriorly rotated ears Downslanted palpebral fissures Behavioral abnormality Cleft palate Autistic behavior Microphthalmia Neonatal hypotonia Short neck Abnormality of vision Hypertelorism Muscular hypotonia Short chin Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Strabismus Cognitive impairment Abnormality of the coagulation cascade Severe short stature Hyperkeratosis Apnea Abnormality of the eye Dry skin Ichthyosis Scaling skin Erythroderma Coloboma Rotary nystagmus Short philtrum Spastic tetraparesis Premature birth Focal-onset seizure Hypsarrhythmia Tetraparesis Progressive neurologic deterioration Leukodystrophy CNS hypomyelination Abnormal pyramidal sign Global brain atrophy Decreased muscle mass Rapid neurologic deterioration Ankle clonus Severe failure to thrive Corpus callosum atrophy Polymicrogyria Rigidity Toe syndactyly Abnormal oral frenulum morphology Arachnodactyly Long fingers Central apnea Small face Hand clenching Progressive flexion contractures Abnormality iris morphology EEG abnormality Sudanophilic leukodystrophy Bullet-shaped distal phalanx of the hallux Vomiting Kyphoscoliosis Coarse facial features Projectile vomiting Finger clinodactyly Cerebellar hemisphere hypoplasia Prominent nose Choanal atresia Cerebellar vermis atrophy Athetosis Inability to walk Peripheral axonal neuropathy Babinski sign Intellectual disability, severe Peripheral neuropathy Delayed speech and language development Abnormal neuron morphology Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Profound global developmental delay Cortical gyral simplification Delayed myelination Cerebral cortical atrophy Abnormal cerebellum morphology Prominent nasal bridge Premature chromatid separation Acute myeloid leukemia Myeloid leukemia Nephroblastoma Leukemia Abnormality of the nervous system Neoplasm Loss of Purkinje cells in the cerebellar vermis Infantile encephalopathy Congenital contracture Respiratory failure Abnormality of metabolism/homeostasis Optic neuropathy Irritability Oral cleft Gastroesophageal reflux Joint stiffness Camptodactyly Clinodactyly of the 5th finger Clinodactyly Abnormality of cardiovascular system morphology Cryptorchidism Talipes valgus Postnatal microcephaly Involuntary movements Hypertrichosis Esotropia Astigmatism Poor speech Hypermetropia Gait ataxia Abnormality of the cerebral white matter Pes cavus Hypoplasia of the corpus callosum Dysphagia Myopia Hypoplasia of the ventral pons Extrapyramidal dyskinesia Impaired smooth pursuit Abnormality of the periventricular white matter Restlessness Opisthotonus Poor suck Progressive microcephaly Cerebellar vermis hypoplasia Dyskinesia Diffuse cerebral sclerosis


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