Global developmental delay, and Scoliosis

Diseases related with Global developmental delay and Scoliosis

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

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

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

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

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

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

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE Is also known as mental retardation, x-linked, with epilepsy|mrxsh|mrxe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Top 5 symptoms//phenotypes associated to Global developmental delay and Scoliosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Rare - less than 30% cases

Other less frequent symptoms

Patients with Global developmental delay and Scoliosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Hyperreflexia Generalized tonic-clonic seizures Generalized myoclonic seizures Epileptic encephalopathy Atonic seizures Gait disturbance Clonus Autism Drooling Kyphoscoliosis Aggressive behavior Babinski sign Hypoplasia of the pons Short stature Microcephaly Autistic behavior Infantile spasms Tremor Skeletal muscle atrophy Dysarthria Delayed speech and language development Status epilepticus Ventriculomegaly Axonal regeneration Hand muscle atrophy Vocal cord paresis Abnormal cranial nerve morphology Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Decreased nerve conduction velocity Split hand Peripheral demyelination Action tremor Distal amyotrophy Distal sensory impairment Inability to walk Hypomimic face Peripheral axonal neuropathy Lower limb muscle weakness Abnormality of the foot Limb muscle weakness Abnormal pyramidal sign Distal muscle weakness Proximal muscle weakness Difficulty walking Agraphesthesia Areflexia Absent speech Focal-onset seizure Sleep disturbance Growth delay Motor delay Cognitive impairment Cerebellar atrophy Cerebral atrophy Spinal cord compression Hyporeflexia Ectopic kidney Rigidity Convex nasal ridge Paraplegia Severe short stature Micrognathia Poor eye contact Epileptic spasms Intellectual disability, moderate Self-injurious behavior Postural instability Parkinsonism Focal impaired awareness seizure Mutism Bradykinesia Apraxia Hypsarrhythmia Slurred speech Resting tremor Hypoplasia of the corpus callosum Talipes equinovarus Abnormality of movement Peripheral neuropathy Obsessive-compulsive trait Eyelid myoclonus Photosensitive tonic-clonic seizures EEG with spike-wave complexes (>3.5 Hz) Abnormal brain FDG positron emission tomography Impulsivity Absence seizures Febrile seizures Falls Developmental regression Mental deterioration Myoclonus Eyelid fasciculation Poor coordination Myoclonic atonic seizures Broad-based gait Attention deficit hyperactivity disorder Anxiety EEG abnormality Hyperactivity Halitosis Muscle fibrillation Bilateral ptosis Pectus carinatum Pneumonia Fever Ptosis EEG with abnormally slow frequencies Agenesis of corpus callosum Muscle weakness Muscular hypotonia Nonprogressive cerebellar ataxia Sideroblastic anemia Hypochromic microcytic anemia Hyperactive deep tendon reflexes Microcytic anemia Dysdiadochokinesis Incoordination Intention tremor Dysmetria Neurological speech impairment Abnormality of metabolism/homeostasis Anemia Strabismus Unsteady gait Nystagmus Cerebellar agenesis Schizencephaly Vertebral compression fractures Thin ribs Increased susceptibility to fractures Arnold-Chiari malformation Blue sclerae Recurrent fractures Platyspondyly Cerebellar hypoplasia Bimanual synkinesia Ankle clonus Astereognosia


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