Intellectual disability, severe, and Joint hypermobility

Diseases related with Intellectual disability, severe and Joint hypermobility

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

Top matches:

Medium match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Other less relevant matches:

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match FRAGILE X SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

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

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

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

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Muscular hypotonia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Absent speech

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Abnormal facial shape Hyperreflexia Joint hyperflexibility Wide nasal bridge Feeding difficulties Aggressive behavior Deeply set eye Autism Hyperactivity Flexion contracture Cerebellar atrophy Intellectual disability, moderate Ventriculomegaly Cerebral cortical atrophy Neonatal hypotonia Narrow face Thick eyebrow Ptosis Delayed speech and language development Long face Hypoplasia of the corpus callosum Macrotia Failure to thrive Scoliosis Heterotopia Macrocephaly Poor speech Abnormality of neuronal migration Downslanted palpebral fissures Tetraplegia Coarse facial features Cryptorchidism Generalized-onset seizure Severe global developmental delay Dystonia Hypertonia Nystagmus Micropenis Growth delay Autistic behavior Hypertelorism Encephalopathy Mandibular prognathia Visual impairment Attention deficit hyperactivity disorder Feeding difficulties in infancy Drooling Long nose Midface retrusion Stereotypy

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Dilatation Motor delay Cerebellar hypoplasia Cognitive impairment Agenesis of corpus callosum Epicanthus Behavioral abnormality Hypermetropia Malar flattening Ophthalmoplegia Self-mutilation Myopathic facies Cachexia Muscular hypotonia of the trunk Open mouth Delayed myelination Broad forehead Pain Pectus excavatum Cortical dysplasia Narrow mouth Cataract Long philtrum Posteriorly rotated ears Osteoporosis Hypogonadism Brachycephaly Convex nasal ridge Relative macrocephaly Short palpebral fissure Hypertrichosis Overlapping toe External genital hypoplasia Abnormality of the dentition Sparse hair Decreased testicular size Micrognathia Hyperpigmentation of the skin Enlarged cisterna magna Intellectual disability, profound Dyslexia Skeletal muscle atrophy Shyness Gastroesophageal reflux Arthrogryposis multiplex congenita Abnormality of the foot Sleep disturbance Postnatal microcephaly Facial asymmetry Happy demeanor Conspicuously happy disposition Frontal bossing Obesity High forehead Anxiety Joint laxity Ataxia Hyperkinesis Talipes equinovarus Narrow forehead Epileptic encephalopathy Febrile seizures Chorea Inguinal hernia Self-injurious behavior Pes planus Spastic tetraplegia Cerebral atrophy Microretrognathia Constipation Abnormality of eye movement Wide mouth Talipes Bulbous nose Short philtrum Involuntary movements Cerebral visual impairment EEG abnormality Round face Decreased muscle mass Gait ataxia Spastic tetraparesis Tetraparesis Abnormality of the eye Abnormality of the periventricular white matter Narrow palpebral fissure Hypergonadotropic hypogonadism Microphakia High pitched voice Hearing impairment Facial hypertrichosis Peripheral neuropathy Posterior synechiae of the anterior chamber Abnormality of the skeletal system Short toe Amenorrhea Kyphosis Hypothyroidism Hypoplasia of penis Abnormality of the pinna Abnormality of bone mineral density Blepharophimosis Posterior uveitis Delayed puberty Oral cleft Tapered finger Gynecomastia Full cheeks Cat cry Spastic dysarthria Spastic diplegia Hyperglycinuria Corneal opacity Muscle weakness Small hand Optic atrophy Recurrent fractures Microphthalmia Severe short stature Upslanted palpebral fissure Preauricular skin tag Glaucoma Myoclonus Kyphoscoliosis Retrognathia Coloboma Congenital cataract Anteverted ears Polymicrogyria Microcornea Brain atrophy Pachygyria Progressive muscle weakness Cerebral palsy Hyperextensible skin Bilateral cryptorchidism Abnormality of the voice Neurodevelopmental delay Blindness Retinal coloboma Abnormal pupil morphology Scrotal hypoplasia Hypopituitarism Prominent supraorbital ridges Broad-based gait Dermal atrophy Tented upper lip vermilion Oligodontia Long eyelashes Dental crowding Broad thumb Thin skin Bilateral talipes equinovarus Hemiparesis Fine hair Nail dysplasia Dental malocclusion Prominent nose Ectodermal dysplasia Abnormality of dental morphology Abnormality of digit Wide nose Pes valgus Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Overbite Restlessness Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Narrow nose Downturned corners of mouth Short palm Hammertoe Large earlobe Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Short 5th finger Widely spaced toes Ketoacidosis Broad neck Broad foot Congenital macroorchidism Thickened calvaria Abnormality of the hip bone Truncal obesity Cervical spinal canal stenosis Hypoplasia of the prostate Thin vermilion border Thin upper lip vermilion Arachnodactyly Smooth philtrum Abnormality of the cerebral white matter Prominent nasal bridge Postnatal growth retardation Camptodactyly Osteopenia Scheuermann-like vertebral changes Hyperhidrosis Clinodactyly of the 5th finger Hernia Anteverted nares Brachydactyly Low-set ears Cleft palate Severe temper tantrums Ascending tubular aorta aneurysm Folate-dependent fragile site at Xq28 Confusion Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Babinski sign Syndactyly Abnormality of cardiovascular system morphology Recurrent infections Patent ductus arteriosus Inappropriate crying Oculogyric crisis Skeletal dysplasia Stroke Intestinal malrotation Ileus Patent foramen ovale Shawl scrotum Atonic seizures Emphysema Bruxism Abnormality of the coagulation cascade Aortic aneurysm Bicuspid aortic valve Focal-onset seizure Aortic regurgitation Lissencephaly Profound global developmental delay Mitral regurgitation Myocardial infarction Nephrotic syndrome Impaired social interactions Speech apraxia Widow's peak Irritability Everted upper lip vermilion Generalized joint laxity Prominent antihelix Facial hypotonia Genu recurvatum Overweight Gait disturbance Vomiting Progressive spastic paraplegia Pointed chin Abnormality of metabolism/homeostasis Pes cavus Intrauterine growth retardation Amblyopia Waddling gait Chronic constipation External ophthalmoplegia Short neck Athetosis Mask-like facies Language impairment Redundant skin Difficulty walking Exotropia Paraplegia Tall stature Aganglionic megacolon Clumsiness Choreoathetosis Parkinsonism Spastic paraplegia Infantile spasms Disproportionate tall stature Increased size of the mandible Large hands Low-set, posteriorly rotated ears Finger syndactyly Protruding ear Neurological speech impairment Abnormality of movement Thick vermilion border Postural instability Otitis media Overgrowth Mitral valve prolapse Sinusitis Abnormal pyramidal sign Premature ovarian insufficiency Chronic otitis media Polyphagia Depressivity Irregular dentition Macroorchidism, postpubertal Finger joint hypermobility Encopresis Oppositional defiant disorder Periventricular gray matter heterotopia Abnormal head movements Mood swings Broad palm Acetabular dysplasia Hyperextensibility of the finger joints Enuresis Large forehead Macroorchidism Poor eye contact Inability to walk Dyskinesia Congenital nephrotic syndrome Truncal ataxia Subependymal nodules Global brain atrophy Dysphagia Focal impaired awareness seizure Progressive microcephaly Developmental regression Narrow chest Unsteady gait Urinary incontinence Neuronal loss in central nervous system Status epilepticus Decreased body weight Hypsarrhythmia Clonus Intellectual disability, progressive Atrial septal defect Slender finger Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Inappropriate laughter Hypotelorism Abnormality of the nose Atrophy/Degeneration affecting the brainstem Dysphasia Aplasia/Hypoplasia of the corpus callosum Bowel incontinence Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Adducted thumb Mutism Infantile muscular hypotonia Narrow jaw


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