Intellectual disability, severe, and Joint hyperflexibility

Diseases related with Intellectual disability, severe and Joint hyperflexibility

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

Top matches:

High 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

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

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Other less relevant matches:

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

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

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Intellectual disability, moderate

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Long face Micrognathia Cryptorchidism Downslanted palpebral fissures Feeding difficulties in infancy Scoliosis High palate Inguinal hernia Narrow face Hypertonia Absent speech Abnormal facial shape Delayed speech and language development Ptosis Spasticity Hypertelorism Pes planus Intrauterine growth retardation Skeletal muscle atrophy Talipes equinovarus Abnormality of the pinna Growth delay Hearing impairment Severe global developmental delay Optic atrophy Depressed nasal bridge Hip dislocation Long philtrum Clinodactyly of the 5th finger Cachexia Hypogonadism Blepharophimosis Stereotypy Cataract Thick lower lip vermilion Intellectual disability, profound Gastroesophageal reflux Autism Gait ataxia Pectus excavatum Intellectual disability, mild Ventriculomegaly Coarse facial features Venous insufficiency Kyphosis Abnormality of the skeletal system Macrocephaly Strabismus Nystagmus Brachydactyly Dilatation Joint hypermobility Narrow chest Hypoplasia of the corpus callosum Finger syndactyly Behavioral abnormality Motor delay Feeding difficulties Joint laxity Hyperactivity Mandibular prognathia Recurrent fractures Small hand Aggressive behavior Hernia Short neck Low-set, posteriorly rotated ears Epicanthus

Rare Symptoms - Less than 30% cases

Low-set ears Micropenis Obesity Short philtrum High pitched voice Abnormality of bone mineral density Cat cry Visual impairment Ataxia Wide nasal bridge Gait disturbance Macrotia Myopia Synostosis of joints Wide mouth High forehead Hypermetropia Patent ductus arteriosus Abnormal heart morphology Hypospadias Developmental regression Hydronephrosis Large earlobe Conspicuously happy disposition EEG abnormality Microretrognathia Gynecomastia Flexion contracture Cerebellar atrophy Generalized-onset seizure Moderately short stature Aplasia/Hypoplasia of the corpus callosum Poor suck Truncal obesity Prominent supraorbital ridges Narrow palpebral fissure Round face Short toe Short palm Dysphagia Hypoplasia of penis Decreased testicular size Full cheeks Thick eyebrow Oral cleft Delayed puberty Sparse hair Facial asymmetry Preauricular skin tag Abnormality of cardiovascular system morphology Deeply set eye Down-sloping shoulders Dolichocephaly Ophthalmoplegia Abnormal palate morphology Pes cavus Relative macrocephaly Osteoporosis Self-mutilation Abnormality of the face Redundant skin Chronic diarrhea Hypothermia Jaundice Microphthalmia Atypical scarring of skin Coarse hair Frontal bossing Neonatal hypotonia Cleft palate Sensorineural hearing impairment Umbilical hernia Hyperextensible skin Exostoses Mask-like facies Myopathic facies Hypopigmentation of the skin Toe syndactyly Wormian bones Bladder diverticulum Prominent nose Tarsal synostosis Diarrhea Open mouth Premature graying of hair Choreoathetosis Convex nasal ridge Chorea Aganglionic megacolon Bowing of the long bones Sandal gap Horseshoe kidney Dystonia Dental crowding Cutis laxa Intracranial hemorrhage Open bite Large hands Short thumb Cubitus valgus Acanthosis nigricans Cortical gyral simplification Tics Broad-based gait Cortical dysplasia Biparietal narrowing Abnormality of the musculature Shock Cerebellar vermis atrophy Joint dislocation Striae distensae Abnormal hair pattern Scaphocephaly Restlessness Distal lower limb amyotrophy Spastic tetraparesis Intention tremor Hypocupremia Interphalangeal joint contracture of finger Arterial stenosis Sparse scalp hair Panhypopituitarism Chondrocalcinosis Aplasia/Hypoplasia of the abdominal wall musculature Hyperhidrosis Trichorrhexis nodosa Abnormality of the metaphysis Camptodactyly of finger Spontaneous hematomas Immunodeficiency Tremor Therapeutic abortion Metaphyseal spurs Multiple joint dislocation Pili torti Woolly hair Memory impairment Short foot Metaphyseal widening Macroglossia Cerebral hemorrhage Osteomyelitis Opisthotonus Prominent occiput Prolonged neonatal jaundice Progressive neurologic deterioration Polymicrogyria Hypopigmentation of hair Abnormal carotid artery morphology Synophrys Abnormality of lipid metabolism Neurological speech impairment Thickened skin Bulbous nose Hyperacusis Abdominal obesity Short humerus Generalized joint laxity Abnormality of the wrist Premature skin wrinkling Esophagitis Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Short clavicles Acute kidney injury Dislocated radial head Prominent superficial veins Osteomalacia Orthostatic hypotension Limited elbow extension Delayed cranial suture closure Rickets Bilateral ptosis Osteolysis Coxa vara Coxa valga Large fontanelles Broad ribs Avascular necrosis of the capital femoral epiphysis Cholestasis Capitate-hamate fusion Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Abnormality of the pubic bone Abnormality of fibula morphology Large iliac wings Broad clavicles Long neck Absent tibia Abnormality of the sense of smell Keloids Gastroparesis Aplastic clavicle Thick hair Femoral hernia Recurrent urinary tract infections Blue sclerae Abnormality of earlobe Downturned corners of mouth Metatarsus adductus Tracheoesophageal fistula Short metatarsal Aspiration Hallucinations Short metacarpal Dental malocclusion Bifid uvula Postural instability Single transverse palmar crease Small for gestational age Delusions Abnormality of the kidney Cleft lip Anxiety Difficulty walking Clinodactyly Syndactyly Respiratory distress Abnormality of toe Mood swings Small earlobe Esophageal atresia Stenosis of the external auditory canal Hepatitis Renal insufficiency Cerebral calcification Specific learning disability Hip dysplasia High, narrow palate Bruising susceptibility Genu valgum Platyspondyly Pectus carinatum Scarring Osteopenia Recurrent infections in infancy and early childhood Diastasis recti Overfriendliness High axial triradius Oppositional defiant disorder Anterior open-bite malocclusion High-pitched cry Tetraparesis Functional respiratory abnormality Auditory hallucinations Facial grimacing Echolalia Short attention span Fine hair Long nose Gastrointestinal hemorrhage White forelock Hypoplasia of the premaxilla White eyebrow Foot oligodactyly White eyelashes Macrodontia Arrhinencephaly Hand oligodactyly Intestinal pseudo-obstruction Abnormality of the thumb Camptodactyly of 2nd-5th fingers Abnormality of the upper limb White hair Abnormality of the lower limb Heterochromia iridis Blue irides Short tibia Abnormal eyebrow morphology Postaxial foot polydactyly Lacrimal gland hypoplasia True anophthalmia Fibular hypoplasia Hammertoe Ketoacidosis Broad neck Broad foot Hypopituitarism Thickened calvaria Abnormality of the hip bone External genital hypoplasia Abnormality of neuronal migration Scrotal hypoplasia Peripheral neuropathy Hypergonadotropic hypogonadism Hyperpigmentation of the skin Heterotopia Hypertrichosis Narrow forehead Amenorrhea Tapered finger Hypothyroidism Abnormality of the dentition Synostosis of carpal bones Tibial bowing Shortening of all distal phalanges of the fingers Attention deficit hyperactivity disorder Language impairment External ophthalmoplegia Exotropia Tall stature Clumsiness Delayed myelination Parkinsonism Broad forehead Autistic behavior Chronic constipation Irritability Muscular hypotonia of the trunk Constipation Abnormality of metabolism/homeostasis Midface retrusion Malar flattening Vomiting Cognitive impairment Abnormality of the voice Athetosis Speech apraxia Elbow dislocation Hypoplasia of the maxilla Short long bone Anosmia Abnormality of the metacarpal bones Hypopigmented skin patches Bilateral single transverse palmar creases Broad thumb Abnormal form of the vertebral bodies Postaxial hand polydactyly Thin vermilion border Ileus Cleft upper lip Prominent forehead Hydrocephalus Underfolded superior helices Poor hand-eye coordination Abnormality of creatine metabolism Duodenal ulcer Urethral stenosis Impaired social interactions Short 5th finger Camptodactyly of toe Sepsis Renal agenesis Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Genu varum Aortic regurgitation Short chin Bilateral sensorineural hearing impairment Progressive visual loss Esotropia Congenital nystagmus Microcornea Highly arched eyebrow Iris coloboma Corneal opacity Coloboma Mental deterioration Telecanthus Agenesis of corpus callosum Congestive heart failure Bowing of the legs Neurogenic bladder Ventricular septal defect Fatigue Neurodegeneration Dry skin Nausea and vomiting Malabsorption Hypoglycemia Brachycephaly Dementia Cerebral atrophy Dysarthria Hypoplasia of teeth Muscle weakness Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Atrial septal defect Loss of ability to walk in first decade Long ear Abnormality of the eye Epileptic encephalopathy Urinary incontinence Sleep disturbance Unsteady gait Poor speech Abnormality of eye movement Abnormality of the foot Arthrogryposis multiplex congenita Cerebral cortical atrophy Involuntary movements Encephalopathy Hyperreflexia Pain Scheuermann-like vertebral changes Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Diabetic ketoacidosis Neuronal loss in central nervous system Decreased body weight Photosensitive tonic-clonic seizures Decreased muscle mass Inappropriate laughter Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Dysphasia Bowel incontinence Aplasia/Hypoplasia of the cerebellum Postnatal microcephaly Abnormality of the thorax Adducted thumb Hyperkinesis Mutism Infantile muscular hypotonia Drooling Intellectual disability, progressive Truncal ataxia Clonus Humerus varus


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