Cognitive impairment, and Dental malocclusion

Diseases related with Cognitive impairment and Dental malocclusion

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

Top matches:

Medium match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Other less relevant matches:

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Medium match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Dental malocclusion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cognitive impairment and Dental malocclusion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Failure to thrive Frontal bossing Intellectual disability, mild Autistic behavior Delayed speech and language development Ptosis Apnea Micrognathia Generalized hypotonia Muscular hypotonia Scoliosis Wide nasal bridge High, narrow palate Sensorineural hearing impairment Syndactyly Hypertension Cryptorchidism Short stature Myopia Protruding ear Autism Prominent forehead Camptodactyly Gait disturbance Trigonocephaly Hypermetropia Nystagmus Anxiety Feeding difficulties EEG abnormality Dysarthria Gastroesophageal reflux Hydrocephalus Malar flattening Abnormality of the pinna Proptosis Patent ductus arteriosus Increased intracranial pressure Optic atrophy Mandibular prognathia Midface retrusion Hyperactivity

Rare Symptoms - Less than 30% cases

Hyperreflexia Bifid uvula Poor eye contact Retinopathy Dolichocephaly Infantile muscular hypotonia Dental crowding Hypogonadism Delayed myelination Brachycephaly Triangular face Hypoplasia of the maxilla Smooth philtrum Feeding difficulties in infancy Cerebral visual impairment Knee flexion contracture Low-set, posteriorly rotated ears Umbilical hernia Neonatal hypotonia Weak cry Constipation Micropenis Absent speech High forehead Motor delay Short palm Anteverted nares Ventricular septal defect Abnormality of the skeletal system Febrile seizures Abnormal heart morphology Large hands Atrial septal defect Macrocephaly Ataxia Flexion contracture Hepatomegaly Craniosynostosis Tremor Respiratory distress Intellectual disability, severe Low-set ears Splenomegaly Cerebral atrophy Flat occiput Bilateral sensorineural hearing impairment Polyneuropathy Recurrent infections Prominent nasal bridge Sparse hair Hypothyroidism Diarrhea Ventriculomegaly Broad hallux Growth delay Abnormal facial shape Intrauterine growth retardation Abnormality of the dentition Retrognathia Carious teeth Genu valgum Intestinal malrotation Tall stature Long eyelashes Nail dysplasia Narrow palate Prominent nose Headache Depressed nasal bridge Hypoplasia of the corpus callosum Dysphagia Epicanthus Cleft palate Bipolar affective disorder Poor head control 2-3 toe syndactyly Hypoplastic toenails Hypoplastic pelvis Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Recurrent skin infections Sacral dimple Abnormality of the outer ear Impaired pain sensation Accelerated skeletal maturation Dry hair Short chin Multicystic kidney dysplasia Pointed chin Lymphedema Hypohidrosis Cellulitis Arachnoid cyst Palpebral edema Hyperorality Hair-pulling Basal ganglia calcification Abnormality of visual evoked potentials Severe postnatal growth retardation Fulminant hepatic failure Atypical scarring of skin Progeroid facial appearance Tongue thrusting Hypoplastic iliac wing Abnormality of the periventricular white matter Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Heat intolerance Bruxism Chronic diarrhea Vomiting Patchy demyelination of subcortical white matter Irritability Immunodeficiency Bulbous nose Hepatic failure Unsteady gait Facial asymmetry Nausea and vomiting Obesity Hyporeflexia Slender nose Square pelvis bone Thick vermilion border Intellectual disability, moderate Peripheral dysmyelination Aggressive behavior Hydronephrosis Deeply set eye Clinodactyly of the 5th finger Ivory epiphyses of the phalanges of the hand Macrotia Agenesis of corpus callosum Thick eyebrow Increased cellular sensitivity to UV light Nephrolithiasis Abnormality of the genital system Renal dysplasia Menstrual irregularities Hypoplasia of teeth Behavioral abnormality CNS demyelination Recurrent pyelonephritis Abnormal auditory evoked potentials Delayed eruption of primary teeth Retinal pigment epithelial mottling Chorioretinitis Sleep disturbance Broad-based gait Hepatitis Decreased lacrimation Loss of facial adipose tissue Normal pressure hydrocephalus Severe photosensitivity Long philtrum Vesicoureteral reflux Full cheeks Renal cyst Thickened calvaria Kyphosis Reduced subcutaneous adipose tissue Microglossia Lateral clavicle hook Dermal translucency Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Spondylolisthesis Communicating hydrocephalus Missing ribs Genu recurvatum Obstructive sleep apnea Gastroparesis Shallow orbits Arnold-Chiari type I malformation Aortic root aneurysm Anteriorly placed anus Cerebral calcification Cutaneous photosensitivity Pain Dislocated radial head Thin ribs Supernumerary ribs Arterial tortuosity Slender finger Proteinuria Renal insufficiency Arrhythmia Spasticity Severe short stature Cataract Muscle weakness Neoplasm C1-C2 vertebral abnormality Dementia Dry skin Dural ectasia Abnormality of skin pigmentation Limitation of joint mobility Minimal subcutaneous fat Peripheral demyelination Hallux varus Cranial asymmetry Abdominal wall muscle weakness Pigmentary retinopathy Atlantoaxial dislocation Fragile skin Abnormality of the sternum Anhidrosis Joint laxity Joint hypermobility Arachnodactyly Neoplasm of the skin Joint hyperflexibility Abnormality of the foot Narrow chest Pectus carinatum Camptodactyly of finger Joint stiffness Telecanthus Interphalangeal joint contracture of finger Conductive hearing impairment Pes planus Osteopenia Posteriorly rotated ears Inguinal hernia Pectus excavatum Dilatation Talipes equinovarus Decreased nerve conduction velocity Mitral valve prolapse Blue sclerae Anorexia Ectopia lentis Disproportionate tall stature Leukodystrophy Opacification of the corneal stroma Metatarsus adductus Hammertoe Elbow dislocation Metaphyseal widening Aortic aneurysm Atherosclerosis Hyperextensible skin Choanal atresia Arnold-Chiari malformation Aortic regurgitation Joint contracture of the hand Wide anterior fontanel Amblyopia Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Mitral regurgitation Hernia Craniofacial asymmetry Reduced protein S activity Oral-pharyngeal dysphagia Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Echolalia High hypermetropia Dysphasia Open bite Abnormality of dental morphology Language impairment Poor fine motor coordination Failure to thrive in infancy Patent foramen ovale Sleep apnea Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Small for gestational age Broad forehead Attention deficit hyperactivity disorder Abnormality of the pharynx Prominent nasal tip Abnormality of the kidney Delayed puberty Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Dehydration Amenorrhea Decreased testicular size Sensory neuropathy Abnormality of movement Hypotrichosis Expressive language delay Arthrogryposis multiplex congenita Mental deterioration Diabetes mellitus Alopecia Babinski sign Abnormality of metabolism/homeostasis Dystonia Peripheral neuropathy Receptive language delay Central sleep apnea Wide mouth Abnormality of cardiovascular system morphology Sparse scalp hair Constriction of peripheral visual field Deviation of finger Diaphyseal thickening Fingernail dysplasia Craniofacial hyperostosis Abnormality of the nose Abnormal cortical bone morphology Broad ribs Abnormal cranial nerve morphology Hyperostosis Abnormality of pelvic girdle bone morphology Broad clavicles Anosmia Cutaneous syndactyly Increased bone mineral density Overgrowth Esotropia Finger syndactyly Paralysis Facial palsy Visual loss Esodeviation Sclerotic vertebral endplates Schizophrenia Broad thumb Posterior helix pit Mild myopia Pes valgus Overbite Preeclampsia Low hanging columella Long nose Overlapping toe Delayed gross motor development Convex nasal ridge Trigeminal neuralgia Premature birth Highly arched eyebrow Hirsutism Postnatal growth retardation Delayed skeletal maturation Cortically dense long tubular bones Facial palsy secondary to cranial hyperostosis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Primary amenorrhea Choreoathetosis Reduced protein C activity Thimble-shaped middle phalanges of hand Muscular dystrophy Abnormal pyramidal sign Abnormality of the eye Elevated hepatic transaminase Gait ataxia Elevated serum creatine phosphokinase Cerebellar atrophy Myopathy Edema Low-frequency sensorineural hearing impairment Dysmetria Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Severe global developmental delay Small hand Oxycephaly Ankle contracture Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Type I transferrin isoform profile Abnormal myelination Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Lower limb hyperreflexia Intention tremor Increased variability in muscle fiber diameter Poor suck Abnormality of vision Hemangioma Venous thrombosis Truncal ataxia Decreased liver function Telangiectasia Postnatal microcephaly Progressive neurologic deterioration Anterior plagiocephaly Aqueductal stenosis Hallucinations Heart block Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Progressive alopecia Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hypoplasia of the fallopian tube Brachydactyly Upper airway obstruction Radial deviation of finger Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Short middle phalanx of finger Tracheoesophageal fistula Cone-shaped epiphysis Respiratory insufficiency Hypopigmented skin patches Acanthosis nigricans Plagiocephaly Low anterior hairline Bradycardia Epidermal acanthosis Hypopigmentation of the skin Short foot Abnormal cardiac septum morphology Clinodactyly Thymic hormone decreased


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hip dislocation, related diseases and genetic alterations Autoimmunity and Retinal detachment, related diseases and genetic alterations Myopathy and Sepsis, related diseases and genetic alterations Epicanthus and Clinodactyly, related diseases and genetic alterations Ptosis and Macrocephaly, related diseases and genetic alterations Anemia and Arthralgia, related diseases and genetic alterations