Flexion contracture, and Febrile seizures

Diseases related with Flexion contracture and Febrile seizures

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

Top matches:

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Other less relevant matches:

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18 Is also known as spg18|intellectual disability, motor dysfunction, and joint contractures|idmdc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Low match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (OMIM ) and (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6

Top 5 symptoms//phenotypes associated to Flexion contracture and Febrile seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

High palate Intellectual disability, severe Hypertonia Growth delay Paraplegia Spastic paraplegia Micrognathia Wide nasal bridge Short philtrum Severe global developmental delay Short stature Babinski sign Hypertelorism Hearing impairment Ataxia Motor delay Scoliosis Strabismus Decreased testicular size Camptodactyly Abnormality of the periventricular white matter Smooth philtrum Hypoplasia of the corpus callosum Bulbous nose Coarse facial features Muscular hypotonia Neonatal hypotonia Delayed speech and language development Talipes equinovarus Abnormal facial shape

Rare Symptoms - Less than 30% cases

Lower limb muscle weakness Progeroid facial appearance Postnatal growth retardation Polyhydramnios Ventriculomegaly Failure to thrive Short palm Dental malocclusion Knee flexion contracture Nail dysplasia Gait disturbance Waddling gait Abnormality of eye movement Narrow maxilla Flexion contracture of toe Ankle contracture High, narrow palate Tetraplegia Intellectual disability, profound Hernia Thin upper lip vermilion Dental crowding Narrow mouth Gait ataxia Osteoporosis Microretrognathia Inguinal hernia Recurrent infections Limb hypertonia Long philtrum Behavioral abnormality Brachydactyly Feeding difficulties Downslanted palpebral fissures Self-mutilation Tented upper lip vermilion Prominent nasal bridge Thin skin Progressive spastic paraplegia Poor speech Postnatal microcephaly Focal-onset seizure Muscular hypotonia of the trunk Wide mouth Apnea Excessive salivation Cerebral visual impairment Facial hypotonia Open mouth Spastic tetraplegia Optic atrophy Talipes Cerebellar atrophy Delayed myelination Prominent nose Weak cry Osteopenia Anxiety Aggressive behavior Joint laxity Sparse hair High forehead Lower limb hyperreflexia Muscular dystrophy Attention deficit hyperactivity disorder Broad forehead Autism Flat occiput Abnormality of the cerebral white matter Trigonocephaly Poor suck Abnormality of vision Abnormality of the foot Facial asymmetry Joint hyperflexibility Hemangioma Arachnodactyly Long face Thin vermilion border Increased variability in muscle fiber diameter Clinodactyly of the 5th finger Hyperactivity Mild microcephaly Single transverse palmar crease Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Tapered finger High myopia Type I transferrin isoform profile Abnormal myelination Progressive microcephaly Cutaneous syndactyly Spondyloepiphyseal dysplasia Prolonged partial thromboplastin time Deep venous thrombosis Abnormal macular morphology Brachycephaly Central hypothyroidism Cleft palate Upper limb undergrowth Ptosis Low-set ears Macrocephaly Frontal bossing Anteverted nares Abnormality of the dentition Malar flattening Midface retrusion Posteriorly rotated ears Hyperhidrosis Thick eyebrow Sleep disturbance Wide nose Tremor Median cleft palate Toe syndactyly Large beaked nose Dacryocystitis Incomprehensible speech Conspicuously happy disposition Narrow jaw Nystagmus Depressed nasal bridge Hypertension Telangiectasia Progressive neurologic deterioration Hepatomegaly Respiratory distress Happy demeanor Edema Myopathy Splenomegaly Intention tremor Cerebral atrophy Patent ductus arteriosus Small hand Dysmetria Elevated serum creatine phosphokinase Prominent forehead EEG abnormality Elevated hepatic transaminase Abnormality of the eye Retinopathy Toe clinodactyly Pes valgus Downturned corners of mouth Dermal atrophy Abnormal pyramidal sign Ectodermal dysplasia Venous thrombosis Truncal ataxia Convex nasal ridge Fine hair Short palpebral fissure Hemiparesis Broad-based gait Broad thumb Long eyelashes Drooling Oligodontia Relative macrocephaly Abnormality of dental morphology Overbite Overlapping toe Bilateral talipes equinovarus Myopathic facies Long nose Abnormality of digit Restlessness Decreased liver function Reduced antithrombin III activity Narrow nose Short columella Broad hallux phalanx Conical tooth Cleft soft palate Generalized osteoporosis Reduced protein C activity Shallow orbits Hypermetropia Toe walking Muscle weakness Skeletal muscle atrophy Kyphosis Pes cavus Difficulty walking Distal muscle weakness Cough Neurological speech impairment Lower limb spasticity Clonus Elbow flexion contracture Delayed gross motor development Language impairment Aphasia Temperature instability Ankle clonus Delayed ability to walk Hip contracture Upper motor neuron dysfunction Upper limb spasticity Pseudobulbar paralysis Wrist flexion contracture Difficulty in tongue movements Flexion contracture of finger Glabellar reflex Abnormality of jaw muscles Parietal hypometabolism in FDG PET Cognitive impairment Peripheral neuropathy Oromotor apraxia Diffuse white matter abnormalities Retrognathia Loss of ability to walk Dysarthria Dystonia Pes planus Inability to walk Narrow forehead Protruding tongue Genu recurvatum Acetabular dysplasia Everted upper lip vermilion Hydrocephalus Thick vermilion border Highly arched eyebrow Cerebral palsy Spastic diplegia Simple febrile seizures Cerebral hypomyelination Sensorineural hearing impairment Visual impairment Constipation Reduced visual acuity Hepatosplenomegaly Leukodystrophy Abnormal autonomic nervous system physiology CNS hypomyelination Focal impaired awareness seizure Multiple joint contractures Central hypotonia Developmental stagnation Delayed CNS myelination Neurogenic bladder Kyphoscoliosis Abnormality of the nervous system Dolichocephaly Abnormality of the forehead Narrow nasal bridge Premature skin wrinkling Abnormally large globe Upper airway obstruction Dimple chin Narrow nasal ridge Narrow naris Prominent nasal tip Generalized lipodystrophy Absence of subcutaneous fat Congenital generalized lipodystrophy Loss of facial adipose tissue Tented philtrum Narrow nasal tip Cryptorchidism Mask-like facies Anemia Epicanthus Myopia Intrauterine growth retardation Syndactyly Hypospadias Clinodactyly Cerebellar hypoplasia Rod-cone dystrophy Hypothyroidism Mandibular prognathia Gastroesophageal reflux Protruding ear Abnormal cardiac septum morphology Opisthotonus Lipodystrophy Hip dislocation Vitiligo Hypopigmentation of the skin Sepsis Nevus Sensory impairment Spastic gait Cafe-au-lait spot Narrow face Horseshoe kidney Paraparesis Spastic paraparesis Abnormality of the genitourinary system Bowel incontinence Premature graying of hair Axonal degeneration White hair Increased susceptibility to fractures Progressive spastic paraparesis Multiple lentigines Bowel urgency Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Respiratory insufficiency Proptosis Dyspnea Underdeveloped nasal alae Gingival overgrowth Recurrent pneumonia Spastic tetraparesis Reduced protein S activity


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Hypoplasia of penis, related diseases and genetic alterations Hydrocephalus and Dental malocclusion, related diseases and genetic alterations Pain and Sinusitis, related diseases and genetic alterations