Cognitive impairment, and Joint hypermobility

Diseases related with Cognitive impairment and Joint hypermobility

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


Top matches:

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53


Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Low match CK SYNDROME


CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

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Other less relevant matches:

Low match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


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

Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Low match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Joint hypermobility

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Narrow face Microcephaly Muscular hypotonia High palate Generalized hypotonia Delayed speech and language development Downslanted palpebral fissures Cryptorchidism Hyperactivity Abnormal facial shape Ptosis Macrocephaly Attention deficit hyperactivity disorder Kyphosis Gait disturbance Epicanthus Redundant skin Hypertelorism Mandibular prognathia Malar flattening Long philtrum

Rare Symptoms - Less than 30% cases


Hearing impairment Umbilical hernia Dental crowding Wide nasal bridge Cleft palate Long face Abnormality of metabolism/homeostasis Slender build Prominent nasal bridge Irritability Absent speech Aggressive behavior Behavioral abnormality Synophrys Failure to thrive Smooth philtrum Anteverted nares Pes planus Hyperextensible skin Clinodactyly of the 5th finger Pectus excavatum Brachydactyly Osteoporosis Inguinal hernia Sparse scalp hair Coarse facial features Cachexia Frontal bossing Single transverse palmar crease Retrognathia Long hallux Everted lower lip vermilion Thick lower lip vermilion High myopia Difficulty walking Dystonia Hypertonia Broad forehead Ventriculomegaly Urethral stenosis Intellectual disability, moderate Motor delay Tall stature Spasticity Micrognathia Strabismus High, narrow palate Low-set ears Arachnodactyly Pectus carinatum Hyperpigmentation of the skin Broad-based gait Facial asymmetry Intellectual disability, profound Wide intermamillary distance Webbed neck Abnormality of movement Generalized myoclonic seizures Elevated hepatic transaminase Postural instability Recurrent fractures Bulbous nose Unsteady gait Bifid uvula Talipes equinovarus Short philtrum Prolonged partial thromboplastin time Sleep apnea Generalized hirsutism Hoarse voice Hyperkinesis Low posterior hairline Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Dysostosis multiplex Upper airway obstruction Periorbital fullness Abnormality of the pinna Abnormality of the mitochondrion Memory impairment Macroglossia Prolonged prothrombin time Spontaneous abortion Expressive language delay Dysarthria Myopia Developmental regression Myoclonus Brachycephaly Narrow mouth Kyphoscoliosis Camptodactyly Spinal deformities Ichthyosis Nasal speech Talipes Abnormality of the vasculature Generalized osteoporosis Eclabion Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Short neck Congestive heart failure Abnormality of the dentition Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Camptodactyly of finger Finger syndactyly Cleft upper lip Abnormality of the sternum Shawl scrotum Abnormality of the cervical spine High anterior hairline Genu recurvatum Broad foot External ear malformation Megalocornea Broad palm Oral cleft Round face Hypoplasia of the maxilla Delayed eruption of teeth Short foot Small hand Short palm Palpebral edema Prolonged bleeding time Sparse eyebrow Hypogonadism Decreased muscle mass Disproportionate tall stature Long fingers Slender finger Epileptic spasms Hyperextensibility of the finger joints Small earlobe Narrow palm Focal motor seizures Long palm Asymmetry of the ears Dilatation Hernia Alopecia Joint laxity High pitched voice Gingival overgrowth Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Cutis laxa Hypergonadotropic hypogonadism Sparse and thin eyebrow Bronchiectasis Sparse hair Decreased body weight Narrow forehead Overgrowth Thick vermilion border Hirsutism Bruising susceptibility Thin upper lip vermilion Holoprosencephaly Hepatosplenomegaly Mild global developmental delay Abnormality of digit Abnormal cortical bone morphology Almond-shaped palpebral fissure Intrauterine growth retardation Delayed skeletal maturation Glaucoma Craniosynostosis Hip dysplasia Convex nasal ridge Abnormality of dental enamel Sandal gap Reduced number of teeth Cone-shaped epiphysis Prematurely aged appearance Abnormality of earlobe Sleep disturbance Absent earlobe Ataxia Feeding difficulties Hypoplasia of the corpus callosum Intellectual disability, severe Vomiting Midface retrusion Constipation Pes cavus Neonatal hypotonia Muscular hypotonia of the trunk Feeding difficulties in infancy Autistic behavior Hypermetropia Pachygyria Polymicrogyria Parkinsonism Posterior synechiae of the anterior chamber Cataract Visual impairment Hypertension Abnormal heart morphology Reduced visual acuity Joint stiffness Astigmatism Amblyopia Ectopia lentis Uveitis Ectopia pupillae Abnormal pupil morphology Homocystinuria Iris atrophy Myopic astigmatism Hyperlordosis Spastic paraplegia Paraplegia Hypertrichosis Lower limb spasticity Clonus Impaired vibratory sensation Cortical dysplasia Limb dystonia Impaired proprioception Hyperreflexia in upper limbs Abnormality of the auditory canal Upper limb hypertonia Posteriorly rotated ears Upslanted palpebral fissure Ophthalmoplegia Chorea Abdominal pain Short femur Limitation of joint mobility Decreased fetal movement Abnormality of the metaphysis Encephalocele Short ribs Acanthosis nigricans Nystagmus Disproportionate short-limb short stature Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Short thorax Occipital encephalocele Aplasia/Hypoplasia of the lungs Hypoplastic ilia Micromelia Small face Cloverleaf skull Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Pain Hepatomegaly Intellectual disability, mild Splenomegaly Prominent forehead Flat face Narrow chest Delayed myelination Ileus Open mouth Choreoathetosis Clumsiness Aganglionic megacolon Stereotypy Exotropia External ophthalmoplegia Language impairment Mask-like facies Athetosis Myopathic facies Self-mutilation Chronic constipation Speech apraxia Impaired social interactions Platyspondyly Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Depressed nasal bridge Respiratory insufficiency Hydrocephalus Atrial septal defect Patent ductus arteriosus Severe short stature Proptosis Polyhydramnios Skeletal dysplasia Abnormality of the kidney Abnormal vertebral segmentation and fusion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Syncope, related diseases and genetic alterations Hepatomegaly and Hypogonadism, related diseases and genetic alterations Depressed nasal bridge and Hypopigmentation of the skin, related diseases and genetic alterations Myopathy and Glaucoma, related diseases and genetic alterations

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