Intellectual disability, severe, and Dental crowding
Diseases related with Intellectual disability, severe and Dental crowding
In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Dental crowding that can help you solving undiagnosed cases.
Top matches:
High 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
More info about MENTAL RETARDATION, X-LINKED 41; MRX41
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Strabismus
More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS
High match VAN DEN ENDE-GUPTA SYNDROME
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Hypertelorism
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about VAN DEN ENDE-GUPTA SYNDROMEOther less relevant matches:
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 SYNDROMEHigh match 2Q23.1 MICRODELETION SYNDROME
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about 2Q23.1 MICRODELETION SYNDROMEHigh match MICROPHTHALMIA, LENZ TYPE
Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about MICROPHTHALMIA, LENZ TYPEHigh match OCCIPITAL HORN 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 SYNDROMEHigh match 2Q32Q33 MICRODELETION 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 SYNDROMEHigh match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROMETop 5 symptoms//phenotypes associated to Intellectual disability, severe 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 |
| Seizures | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| High palate | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Intellectual disability, severe and Dental crowding. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
PtosisUncommon Symptoms - Between 30% and 50% cases
Clinodactyly of the 5th fingerCommon Symptoms - More than 50% cases
Low-set earsUncommon Symptoms - Between 30% and 50% cases
Abnormal facial shapeCommon Symptoms - More than 50% cases
Short statureUncommon Symptoms - Between 30% and 50% cases
Hydronephrosis Hypertelorism Microcephaly Long face Muscular hypotonia Talipes equinovarus Abnormality of the skeletal system Micrognathia Hearing impairment Autism Growth delay High, narrow palate Long philtrum Camptodactyly Brachydactyly Downslanted palpebral fissures Pectus excavatum Frontal bossing Dilatation Convex nasal ridge Depressed nasal bridge Strabismus Brachycephaly Abnormality of the dentition Gastroesophageal reflux Delayed speech and language development Flexion contracture Atrial septal defect Abnormality of the pinna Coloboma Aggressive behavior Pes planus Coarse facial features Ventricular septal defect Esotropia Absent speech Clinodactyly Hyperlordosis Macrocephaly Nystagmus Feeding difficulties Intellectual disability, mild Cataract Scoliosis Motor delay Visual impairment Myopia Dolichocephaly Ventriculomegaly High forehead Postnatal growth retardation Anteverted nares Prominent nose Hypoplasia of the corpus callosum Microcornea Posteriorly rotated ears Joint contracture of the hand Broad forehead Failure to thrive Facial asymmetry Short palm Iris coloboma Cleft palate Thin upper lip vermilion Joint hyperflexibility Narrow mouth Malar flattening ArachnodactylyRare Symptoms - Less than 30% cases
Behavioral abnormality Short nose Feeding difficulties in infancy Autistic behavior Thick eyebrow Microtia Astigmatism Bulbous nose Macrodontia Constipation Self-injurious behavior Tented upper lip vermilion Generalized hirsutism Open mouth Hyperactivity Hip dysplasia Retrognathia Sleep disturbance Downturned corners of mouth Febrile seizures Wide intermamillary distance Kyphosis Thin vermilion border Coarse hair Poor suck Delayed cranial suture closure Broad ribs Broad clavicles Large iliac wings Wide nasal bridge Sparse hair Smooth philtrum Dental malocclusion Narrow face Fine hair Thin skin Microretrognathia Epicanthus Prominent forehead Conductive hearing impairment Thick vermilion border Intestinal malrotation Coarctation of aorta Narrow palate Osteolysis Large fontanelles Syndactyly Pyloric stenosis Abnormality of cardiovascular system morphology Narrow chest Anal atresia Cleft upper lip Delayed eruption of teeth Webbed neck Lumbar hyperlordosis Aganglionic megacolon Preauricular skin tag Overfolded helix Cerebral calcification Abnormality of dental morphology Short clavicles Self-mutilation Down-sloping shoulders Misalignment of teeth Hernia Inguinal hernia Osteoporosis Joint laxity Specific learning disability Cryptorchidism Osteopenia Protruding ear Dislocated radial head Highly arched eyebrow Hip dislocation Telecanthus Gait ataxia Abnormal heart morphology Patent ductus arteriosus Microphthalmia Spasticity Sclerocornea Cognitive impairment Thick lower lip vermilion Intellectual disability, moderate Absence seizures Hypermetropia Poor speech Short attention span Respiratory distress Macrotia Everted lower lip vermilion Blepharophimosis Craniosynostosis Intellectual disability, profound Narrow nose Short chin Chorioretinal coloboma Relative macrocephaly Aplasia/Hypoplasia of the corpus callosum Mandibular prognathia Abnormality of the kidney Muscular hypotonia of the trunk Proteinuria Abnormality of the nervous system Neonatal hypotonia Craniofacial osteosclerosis Hypoglycemia Polydactyly Hyperkeratosis Dry skin Diabetes mellitus Upslanted palpebral fissure Laryngeal web Recurrent infections Intrauterine growth retardation Peripheral neuropathy Psychosis Narrow jaw Conspicuously happy disposition Carious teeth Postaxial polydactyly Hirsutism Insulin resistance Clitoral hypertrophy Sparse eyebrow Precocious puberty Polycystic ovaries Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Rough bone trabeculation Sparse and thin eyebrow Wide anterior fontanel Incomprehensible speech Hypertrichosis Epidermal acanthosis Alobar holoprosencephaly Optic disc pallor Dehydration Pointed chin Abdominal distention Single transverse palmar crease Laryngotracheomalacia Narrow maxilla Large beaked nose Dacryocystitis Ectodermal dysplasia Broad-based gait Open bite Hemiparesis Short palpebral fissure Unilateral facial palsy Decreased testicular size Nail dysplasia Hyperplasia of the maxilla Wide nose Long eyelashes High iliac wings Facial hyperostosis Talipes Osteopathia striata Metaphyseal striations Abnormality of the foot Straight clavicles Abnormality of the cerebral white matter Prominent nasal bridge Broad thumb Amblyopia Hyperglycemia Broad hallux phalanx Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Short columella Drooling Abnormality of the periventricular white matter Restlessness Abnormality of digit Long nose Myopathic facies Bilateral talipes equinovarus Overlapping toe Dermal atrophy Oligodontia Neonatal respiratory distress Abnormality of the thyroid gland Metatarsus adductus Holoprosencephaly Flat occiput Nephroblastoma Metaphyseal widening Increased susceptibility to fractures Thoracolumbar kyphosis Nasal speech Mutism Cutaneous syndactyly Spina bifida occulta Hyperostosis Spontaneous abortion Sclerosis of skull base Multicystic kidney dysplasia Spina bifida Increased bone mineral density Aortic valve stenosis Abnormal vertebral morphology Omphalocele Abnormality of the metaphysis Otosclerosis Aphasia Narrow forehead Tracheomalacia Thoracic dysplasia Facial paralysis White forelock Ectopic anus Echolalia Osteopetrosis Pierre-Robin sequence Delayed closure of the anterior fontanelle Ankylosis Fibular hypoplasia Dysphasia Anal stenosis Submucous cleft hard palate Fibular aplasia Natal tooth Thickened calvaria Partial agenesis of the corpus callosum Mixed hearing impairment Visual field defect Hypoplastic left heart Oligohydramnios Abnormality of the skin Large forehead Flexion contracture of toe Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Short philtrum Long penis Thick nail Narrow palm Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Ketoacidosis Bell-shaped thorax Growth hormone excess Prematurely aged appearance Female pseudohermaphroditism Asymmetry of the thorax Bifid uvula Hypothyroidism Broad nasal tip Flat face Ophthalmoplegia Paralysis Apnea Facial palsy Cleft lip Skeletal dysplasia Polyhydramnios Severe short stature Postprandial hyperglycemia Headache Myopathy Hydrocephalus Short neck Pain Neoplasm Onychauxis Long palm Laryngeal stridor Lens luxation Carotid artery tortuosity Attention deficit hyperactivity disorder Finger syndactyly Ulnar bowing Brain atrophy Camptodactyly of toe Pulmonary hypoplasia Narrow foot Oral cleft Distal ulnar hypoplasia Toe syndactyly Glenoid fossa hypoplasia Neurological speech impairment Lateral clavicle hook Camptodactyly of finger Long metacarpals Slender metacarpals Low-set, posteriorly rotated ears Kyphoscoliosis Glaucoma Hypospadias Sensorineural hearing impairment Optic atrophy Long hallux Renal hypoplasia Congestive heart failure Radial deviation of finger Optic nerve coloboma Thin ribs Abnormality of the clavicle External ear malformation Abnormal eyebrow morphology Agenesis of permanent teeth Hydroureter Spastic diplegia Bilateral cryptorchidism Anophthalmia Recurrent otitis media Proximal placement of thumb Clubbing Single umbilical artery Choanal stenosis Renal hypoplasia/aplasia Bicuspid aortic valve Muscle stiffness Hypoplastic scapulae Eclabion Blindness Abnormality of lower lip Rectal prolapse Neurogenic bladder Aortic regurgitation Abnormal palate morphology EEG abnormality Genu varum Aortic aneurysm Unilateral renal agenesis Bowing of the legs Encephalopathy Congenital nystagmus Vomiting Wide mouth Fever Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Ataxia Posterior staphyloma Short 2nd toe Scleral staphyloma Short toe Synophrys Paroxysmal bursts of laughter Agenesis of corpus callosum Hemifacial hypoplasia Polyphagia Cupped ear Language impairment Focal impaired awareness seizure Infantile muscular hypotonia Widely spaced teeth Sandal gap Finger clinodactyly Low anterior hairline Bilateral sensorineural hearing impairment Stereotypy Hypoplasia of penis Epileptic encephalopathy Mental deterioration Focal-onset seizure Corneal opacity Short foot Small hand Renal agenesis Progressive visual loss Shield chest Ankyloblepharon Anxiety Abnormality of the wrist Thick hair Femoral hernia Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Asthma Generalized joint laxity Premature skin wrinkling Gastroparesis Hypothermia Esophagitis Atypical scarring of skin Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Exostoses Acute kidney injury Aplastic clavicle Keloids Osteomalacia Limited knee extension Hyperhidrosis Midface retrusion Hyperreflexia Humerus varus Lop ear Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Bladder carcinoma Abnormality of the sense of smell Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Hypoplasia of the maxilla Triangular face Long neck Synostosis of joints Absent tibia Short humerus Orthostatic hypotension Abnormality of the shoulder Narrow nasal bridge Platyspondyly Pectus carinatum Scarring Congenital contracture Jaundice Umbilical hernia Stridor Hallux valgus Femoral bowing Slender long bone Joint hypermobility Renal insufficiency Diarrhea Dysphagia Skeletal muscle atrophy Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Complete duplication of thumb phalanx Long thorax Genu valgum Bruising susceptibility Limited elbow extension Coxa vara Underdeveloped nasal alae Rickets Bilateral ptosis Redundant skin Dandy-Walker malformation Hyperextensible skin Ambiguous genitalia Cutis laxa Bowing of the long bones Wormian bones Laryngomalacia Coxa valga Cardiac arrest Chronic diarrhea Elbow flexion contracture Abnormality of the face Recurrent urinary tract infections Cholestasis Blue sclerae Hepatitis Knee flexion contracture Paranasal sinus hypoplasiaIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Myoclonus, related diseases and genetic alterations Intellectual disability, severe and Finger syndactyly, related diseases and genetic alterations Optic atrophy and Thin skin, related diseases and genetic alterations Pain and Abnormality of the metaphysis, related diseases and genetic alterations Flexion contracture and Hip dysplasia, related diseases and genetic alterations Scoliosis and Hirsutism, related diseases and genetic alterations