Intellectual disability, severe, and Kyphoscoliosis

Diseases related with Intellectual disability, severe and Kyphoscoliosis

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

High match ANE SYNDROME

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Other less relevant matches:

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Kyphoscoliosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Kyphoscoliosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Muscular hypotonia Ventriculomegaly Hypoplasia of the corpus callosum Polymicrogyria Global developmental delay Short stature Cerebellar hypoplasia Abnormal facial shape Cataract Congenital cataract Macrotia Deeply set eye Delayed myelination High palate Scoliosis Cortical dysplasia Severe global developmental delay Epicanthus Focal-onset seizure Brachycephaly Spasticity Cryptorchidism Sensorineural hearing impairment Intellectual disability, profound Pachygyria Downturned corners of mouth Tetraplegia Postnatal microcephaly Inability to walk Microphthalmia Cerebral cortical atrophy Hypogonadism Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum Failure to thrive Hyperreflexia Cerebral visual impairment Hypertonia Tetraparesis Long philtrum Cerebellar atrophy Sloping forehead Spastic tetraparesis Generalized myoclonic seizures Arthrogryposis multiplex congenita Wide nasal bridge Gastroesophageal reflux Severe short stature Respiratory failure Upslanted palpebral fissure Osteoporosis Congenital muscular dystrophy Hearing impairment Spastic diplegia Micropenis Optic atrophy Nystagmus Hyperlordosis Microcornea Hypertrichosis Narrow mouth Progressive muscle weakness External genital hypoplasia Muscle weakness Motor delay Respiratory insufficiency Abnormality of metabolism/homeostasis Neonatal hypotonia Muscular dystrophy Cerebral atrophy Blepharophimosis Downslanted palpebral fissures Heterotopia Delayed puberty Dysphagia Intrauterine growth retardation Peripheral neuropathy Spastic tetraplegia Gait disturbance Prominent forehead Camptodactyly Hypoplasia of the brainstem Cognitive impairment Peripheral axonal neuropathy Hypothyroidism Skeletal muscle atrophy Alopecia Depressed nasal bridge Small hand Gliosis Blindness Neurodegeneration Hirsutism Thin vermilion border Joint laxity Prominent nasal bridge Prominent nose Cerebral calcification Wide intermamillary distance Neuronal loss in central nervous system Peripheral demyelination Abnormality of eye movement Cutaneous photosensitivity Insulin resistance Joint contracture of the hand Elbow flexion contracture Coxa valga Knee flexion contracture Rocker bottom foot Abnormality of the ear Osteopetrosis Abnormality of the eye Highly elevated creatine phosphokinase Kyphosis Astrocytosis Limb-girdle muscular dystrophy Myopathic facies Hypokinesia Weak cry Protruding tongue Abnormality of the periventricular white matter Hypoventilation Abnormality of visual evoked potentials Recurrent lower respiratory tract infections Myositis Abnormal cortical gyration Reduced ejection fraction Atelectasis Cerebral edema Horseshoe kidney Increased connective tissue Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Impaired mastication Increased endomysial connective tissue Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormality of the temporomandibular joint Intercostal muscle weakness Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Long ear Molar tooth sign on MRI Miosis Frontal bossing Deep longitudinal plantar crease Convex nasal ridge Coronal cleft vertebrae Bilateral cleft palate Calcific stippling of infantile cartilaginous skeleton Pregnancy exposure Ptosis Visual impairment Posteriorly rotated ears Glaucoma Retrognathia Coloboma Corneal opacity Joint hypermobility Brain atrophy Short palpebral fissure Delayed CNS myelination Cerebral palsy Hyperextensible skin Bilateral cryptorchidism Overlapping toe Neurodevelopmental delay Enlarged cisterna magna Retinal coloboma Abnormal pupil morphology Anteverted ears Hyperglycinuria Posterior uveitis Posterior synechiae of the anterior chamber Facial hypertrichosis Multiple epiphyseal dysplasia Concave nasal ridge Second metatarsal posteriorly placed Flat face Cleft palate Pain Polydactyly Poor suck Atrial septal defect Abnormality of the dentition Malar flattening Hernia Ventricular septal defect Cleft lip Pulmonic stenosis Dry skin Ichthyosis Pulmonary hypoplasia Polysplenia Short distal phalanx of finger Limitation of joint mobility Limb undergrowth Congenital diaphragmatic hernia Abnormality of the metaphysis Abnormality of epiphysis morphology Rhizomelia Spina bifida occulta Epiphyseal dysplasia Congenital contracture Flared metaphysis Sparse body hair Epiphyseal stippling Severe failure to thrive Focal impaired awareness seizure Decreased body weight Respiratory insufficiency due to muscle weakness Gait ataxia Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Abnormality of the foot Wide mouth Dysarthria Tremor Pectus excavatum Delayed skeletal maturation Diabetes mellitus Hyporeflexia Bruxism Talipes equinovarus Sparse hair Small for gestational age Dysmetria Full cheeks Round face Hypotelorism Blue sclerae Renal hypoplasia Fine hair Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Developmental stagnation Hyperventilation Polydipsia Tapered finger Intellectual disability, mild Absent speech Encephalopathy Constipation Myoclonus Broad palm EEG abnormality Developmental regression Broad forehead Toe walking Short palm Thick vermilion border Short foot Sleep disturbance Poor eye contact Plagiocephaly Epileptic encephalopathy Short toe Apraxia Hypsarrhythmia Thick lower lip vermilion Generalized-onset seizure Stereotypy Waddling gait Progressive microcephaly Everted lower lip vermilion Loss of consciousness Infantile spasms Oligodontia Hyperglycemia Lissencephaly Feeding difficulties in infancy Frontoparietal polymicrogyria Melanocytic nevus Gynecomastia Hyperpigmentation of the skin Respiratory distress Cardiomyopathy Dilatation Hypodontia Arrhythmia Areflexia Elevated serum creatine phosphokinase Intellectual disability, moderate Facial palsy Paralysis Shallow anterior chamber Hip dislocation Carious teeth Abnormality of the cerebral white matter Ophthalmoplegia Macroglossia Bradykinesia Pulmonary arterial hypertension Open mouth Anteverted nares Sensorimotor neuropathy Aspiration Congenital hip dislocation Absence seizures Hypoplastic labia minora Clitoral hypoplasia Polyuria Ulnar deviation of the hand or of fingers of the hand Brisk reflexes High pitched voice Ketoacidosis Down-sloping shoulders Maternal diabetes Prominent superficial veins Recurrent hypoglycemia Kinetic tremor Increased vertebral height Short nose Hypertelorism Clinodactyly of the 5th finger Compensated hypothyroidism Central adrenal insufficiency Labial hypoplasia Postnatal growth retardation Ulnar deviation of the hand Adrenocorticotropic hormone deficiency Upper motor neuron dysfunction Decreased testicular size Cerebellar vermis hypoplasia Motor deterioration Low anterior hairline Narrow palate Scrotal hypoplasia Reduced subcutaneous adipose tissue Adrenal insufficiency Ankle clonus Microphakia


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