Cognitive impairment, and Dental crowding

Diseases related with Cognitive impairment and Dental crowding

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 41; MRX41


Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 41; MRX41 Is also known as mental retardation, x-linked 48|mrx48

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 41; MRX41

Medium 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

Medium 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

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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match 17P11.2 MICRODUPLICATION SYNDROME


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

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match 3MC SYNDROME 1; 3MC1


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

Medium 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

Medium match PHELAN-MCDERMID SYNDROME; PHMDS


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

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hypertelorism Clinodactyly of the 5th finger Ventricular septal defect Atrial septal defect Abnormality of the dentition Intellectual disability, mild Low-set ears Ptosis Autism Hyperactivity Delayed speech and language development Intellectual disability, moderate Narrow face Patent ductus arteriosus Facial asymmetry Gait disturbance Myopia Muscular hypotonia Short stature Strabismus Aggressive behavior Frontal bossing Prominent nasal bridge Long face Macrocephaly Gastroesophageal reflux Short philtrum Agenesis of corpus callosum Behavioral abnormality Cataract Anxiety Attention deficit hyperactivity disorder Nasal speech Downslanted palpebral fissures Failure to thrive Scoliosis Abnormality of the pinna Short chin Joint hyperflexibility Feeding difficulties Brachydactyly Abnormal heart morphology Microphthalmia Mandibular prognathia Dysarthria Abnormality of the skeletal system Pectus excavatum Absent speech Umbilical hernia Hydronephrosis

Rare Symptoms - Less than 30% cases


Telecanthus Hip dislocation Long philtrum Narrow nasal bridge Aortic aneurysm Aplasia/Hypoplasia of the corpus callosum Anorexia Psychosis Hypoplasia of the maxilla Highly arched eyebrow Blepharophimosis Cleft upper lip Conductive hearing impairment Sacral dimple Nystagmus Neurogenic bladder Deeply set eye Spasticity Visual impairment Lymphedema Camptodactyly of finger Optic atrophy Protruding ear Wide nasal bridge Dolichocephaly Hypoplasia of the corpus callosum Ataxia Macrotia Gait ataxia Oral cleft Prominent nose Clinodactyly Depressivity Hernia Ventriculomegaly Short nose Glaucoma Bipolar affective disorder Abnormality of cardiovascular system morphology Poor eye contact High hypermetropia Stereotypy Dental malocclusion Hypermetropia Small for gestational age Autistic behavior Neonatal hypotonia EEG abnormality Microcornea Joint laxity Cleft lip Diarrhea Thin upper lip vermilion Slender build Slender finger Disproportionate tall stature Tall stature Broad-based gait Intellectual disability, severe Intellectual disability, profound Sleep disturbance Abnormal cortical bone morphology Bifid uvula Talipes equinovarus Pointed chin Anteverted nares High, narrow palate Bulbous nose Unsteady gait Arachnodactyly Smooth philtrum Brachycephaly Pectus carinatum Camptodactyly Irritability Thick lower lip vermilion Posteriorly rotated ears Malar flattening Upslanted palpebral fissure Dilatation High forehead Growth delay Episodic vomiting Periorbital fullness Delayed CNS myelination Scleral staphyloma Short 2nd toe Concave nasal ridge Obesity Heat intolerance Toenail dysplasia Pain Bruxism Arachnoid cyst Abnormality of the periventricular white matter Motor delay Posterior staphyloma Hyperorality Cerebellar cortical atrophy Colpocephaly Syndactyly Blindness Hypoplasia of teeth Edema Profound global developmental delay Hyperreflexia Muscle weakness Impaired pain sensation Short upper lip Lens luxation Recurrent pyelonephritis Lop ear Hair-pulling Fulminant hepatic failure Tongue thrusting Palpebral edema 2-3 toe syndactyly Weak cry Vesicoureteral reflux Long eyelashes Renal dysplasia Headache Abnormality of the genital system Hepatitis Recurrent infections Full cheeks Chronic diarrhea Renal cyst Thick vermilion border Thick eyebrow Hepatic failure Nausea and vomiting Midface retrusion Constipation Nephrolithiasis Hypohidrosis Cellulitis Recurrent skin infections Hyporeflexia Hypoplastic toenails Large hands Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Immunodeficiency Increased intracranial pressure Abnormality of the outer ear Arrhythmia Accelerated skeletal maturation Multicystic kidney dysplasia Cerebral visual impairment Vomiting Visual loss Spastic paraplegia Polydactyly Taurodontia Slow-growing hair Abnormality of the nose Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Abnormality of the clavicle Short middle phalanx of the 5th finger Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Dry hair Trichorrhexis nodosa Progressive spasticity Joint contracture of the 5th finger Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Cranial hyperostosis Broad columella Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Metaphyseal dysplasia Abnormality of the ear Hypoglycemia Paraplegia Hypotelorism Cerebral calcification Overgrowth Microdontia Underdeveloped nasal alae Palmoplantar keratoderma Flat face Paresthesia Toe syndactyly Tetraparesis Carious teeth Hypotrichosis Abnormality of the cerebral white matter Congenital nystagmus Finger syndactyly Sparse hair Abnormality of the eye Abnormality of the nervous system Fine hair Short palpebral fissure Non-midline cleft lip Reduced number of teeth Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Abnormality of vision Abnormal form of the vertebral bodies Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Paraparesis Abnormality of the nail Hypoplasia of dental enamel Abnormality of the metaphysis Absence seizures Iris coloboma Bowing of the legs Abnormality of the cardiovascular system Trigonocephaly Failure to thrive in infancy Patent foramen ovale Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Webbed neck Wide intermamillary distance Oral-pharyngeal dysphagia Delayed myelination Triangular face High myopia Broad forehead Wide mouth Feeding difficulties in infancy Abnormality of the kidney Language impairment Abnormality of dental morphology Low-set, posteriorly rotated ears Poor fine motor coordination Hypospadias Hypertension Recurrent fractures Receptive language delay Central sleep apnea Expressive language delay Prominent nasal tip Abnormality of the pharynx Open bite Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Echolalia Postural instability Generalized myoclonic seizures Dysphasia Apnea Hyperpigmentation of the skin Synophrys Hallucinations Long hallux Abnormality of the voice Deep philtrum Schizophrenia Abnormality of the genitourinary system Narrow palm Focal motor seizures Long palm Emotional lability Broad thumb Open mouth Asymmetry of the ears Flexion contracture Neurological speech impairment Intrauterine growth retardation Prominent forehead Obsessive-compulsive behavior Long nose Spontaneous abortion Abnormally folded helix Hypothyroidism Sparse eyebrow Decreased muscle mass Dysphagia Long fingers Epileptic spasms Hyperextensibility of the finger joints Cat cry Small earlobe Oppositional defiant disorder Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Aortic root aneurysm Abnormality of movement Inguinal hernia Unilateral renal agenesis Cranial asymmetry Joint hypermobility Sensorineural hearing impairment Polymicrogyria Abnormality of the occipital bone Single interphalangeal crease of fifth finger Skull asymmetry Caudal appendage Epicanthus inversus Hyperlordosis Abnormal anterior chamber morphology Lambdoidal craniosynostosis Conjunctival telangiectasia Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Depressed nasal bridge Retrognathia Bilateral cleft lip Progressive visual loss Chorioretinal coloboma Relative macrocephaly Genu varum Abnormal palate morphology Aortic regurgitation Short toe Bilateral sensorineural hearing impairment Convex nasal ridge Congestive heart failure Renal agenesis Esotropia Kyphosis Corneal opacity Coloboma Mental deterioration Pes planus Coarse facial features Coronal craniosynostosis Broad foot Difficulty walking Pulmonary arterial hypertension Subvalvular aortic stenosis Broad face Shallow orbits Sandal gap Horseshoe kidney Aspiration Aortic valve stenosis Single transverse palmar crease Osteoporosis Tapered finger Everted lower lip vermilion Abnormality of skin pigmentation Narrow mouth Pulmonic stenosis Respiratory tract infection Kyphoscoliosis Six lumbar vertebrae Myoclonus Underdeveloped supraorbital ridges Pachygyria Supernumerary nipple Radioulnar synostosis Spina bifida occulta Spina bifida Wide anterior fontanel Omphalocele Growth hormone deficiency Short foot Hypogonadism Small hand Abnormality of digit Abnormality of eye movement Craniosynostosis Postnatal growth retardation Muscular hypotonia of the trunk Almond-shaped palpebral fissure Cryptorchidism Thin anteverted nares



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Delayed eruption of teeth, related diseases and genetic alterations Autoimmunity and Lymphadenopathy, related diseases and genetic alterations Edema and Dyspnea, related diseases and genetic alterations Skeletal muscle atrophy and Tetraparesis, related diseases and genetic alterations

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