Intellectual disability, and Scoliosis

Diseases related with Intellectual disability and Scoliosis

In the following list you will find some of the most common rare diseases related to Intellectual disability and Scoliosis that can help you solving undiagnosed cases.

Top matches:

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 8; SCKL8

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

Top 5 symptoms//phenotypes associated to Intellectual disability and Scoliosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Scoliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, mild Ataxia

Rare Symptoms - Less than 30% cases

Hypoplasia of the pons Autistic behavior Inability to walk Aggressive behavior Myoclonus Autism Long foot Prominent forehead Epileptic encephalopathy Kyphoscoliosis Status epilepticus Delayed speech and language development Hyperactivity Intellectual disability, severe Attention deficit hyperactivity disorder Slender build Akinesia Involuntary movements Bradykinesia Brain atrophy Postural instability Long face Hypoplasia of the maxilla Abnormality of movement Narrow face Abnormality of the musculature Abnormal pyramidal sign Growth abnormality Rigidity Gait ataxia Pes cavus Hyporeflexia Dystonia Fatigue Hypomimic face Nasal speech Abnormality of the sternum Resting tremor Absent speech Shuffling gait Infantile spasms Amblyopia Decreased body weight Memory impairment Delayed skeletal maturation Spinal cord compression Ectopic kidney Convex nasal ridge Paraplegia Severe short stature Intrauterine growth retardation Micrognathia Growth delay Poor eye contact Self-injurious behavior Weak voice Focal impaired awareness seizure Mutism Drooling Hypsarrhythmia Focal-onset seizure Sleep disturbance Narrow chest Ventriculomegaly Slowed slurred speech Abnormality of nervous system physiology Short stepped shuffling gait Leg muscle stiffness Anarthria Arachnodactyly Vertebral compression fractures Prominent nasal bridge Broad nasal tip Absence seizures Febrile seizures Generalized myoclonic seizures Falls Generalized tonic-clonic seizures Developmental regression Mental deterioration Tremor Dysarthria Dental crowding Thick lower lip vermilion Small for gestational age Atonic seizures Intellectual disability, moderate Coarse facial features Abnormality of the skeletal system Motor delay Abnormal facial shape Hypertelorism Eyelid fasciculation Obsessive-compulsive trait Poor coordination Broad-based gait Anxiety EEG abnormality Impulsivity Abnormal brain FDG positron emission tomography Pectus carinatum Blue sclerae Mandibular prognathia Pectus excavatum Kyphosis Frontal bossing Macrocephaly High palate Cerebellar agenesis Schizencephaly Thin ribs Increased susceptibility to fractures Arnold-Chiari malformation Recurrent fractures EEG with spike-wave complexes (>3.5 Hz) Platyspondyly Cerebellar hypoplasia Bimanual synkinesia Ankle clonus Clonus Unsteady gait Agenesis of corpus callosum Hyperreflexia Myoclonic atonic seizures EEG with abnormally slow frequencies Eyelid myoclonus Photosensitive tonic-clonic seizures Chorioretinal degeneration


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Bilateral sensorineural hearing impairment, related diseases and genetic alterations Ptosis and Bradycardia, related diseases and genetic alterations Strabismus and Microtia, related diseases and genetic alterations Nystagmus and Macular degeneration, related diseases and genetic alterations Scoliosis and Basal cell carcinoma, related diseases and genetic alterations Generalized hypotonia and Scoliosis, related diseases and genetic alterations