Intellectual disability, severe, and Dental malocclusion

Diseases related with Intellectual disability, severe and Dental malocclusion

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

Top matches:

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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:

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 SYNDROME

High 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

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

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

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 Intellectual disability, severe and Dental malocclusion

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Low-set ears Spasticity Micrognathia Cryptorchidism Wide nasal bridge Sensorineural hearing impairment Abnormal facial shape Cataract Feeding difficulties Downslanted palpebral fissures Cerebral atrophy Optic atrophy Hearing impairment Talipes equinovarus Generalized hypotonia Failure to thrive Hernia Micropenis Abnormality of the pinna Short palm Wide mouth Intrauterine growth retardation Camptodactyly Kyphosis High palate Abnormality of the dentition Thick lower lip vermilion Hypertension Prominent nasal bridge Splenomegaly Depressed nasal bridge Muscular hypotonia Mandibular prognathia Tremor Hepatomegaly Intellectual disability, moderate Short philtrum Proteinuria Epicanthus Anteverted nares Muscle weakness Osteoporosis Brachydactyly Umbilical hernia Smooth philtrum Ataxia Nystagmus Renal insufficiency Malar flattening Basal ganglia calcification Inguinal hernia Sparse hair Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Ivory epiphyses of the phalanges of the hand Reduced subcutaneous adipose tissue Patchy demyelination of subcortical white matter Peripheral dysmyelination Thickened calvaria Anhidrosis Microretrognathia Slender nose Drooling Decreased lacrimation Loss of facial adipose tissue Normal pressure hydrocephalus Dermal atrophy Increased cellular sensitivity to UV light Tented upper lip vermilion Severe photosensitivity Delayed eruption of primary teeth Abnormality of visual evoked potentials Abnormal auditory evoked potentials Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Self-mutilation Progeroid facial appearance Atypical scarring of skin Decreased nerve conduction velocity Respiratory distress Opacification of the corneal stroma Gastroesophageal reflux Flat occiput Metatarsus adductus Ventricular septal defect Hypertonia Hypospadias Clinodactyly Kyphoscoliosis Knee flexion contracture Thick vermilion border Single transverse palmar crease Aspiration Deeply set eye Abnormal heart morphology Abnormality of cardiovascular system morphology Scoliosis Poor suck Small hand Cutaneous photosensitivity Dry skin Pigmentary retinopathy Limitation of joint mobility Conspicuously happy disposition Polyneuropathy Motor delay Nail dysplasia Abnormality of skin pigmentation Carious teeth Severe global developmental delay Patent ductus arteriosus Hypermetropia Prominent forehead Small for gestational age Severe short stature Arrhythmia Retinopathy Febrile seizures Square pelvis bone Myopia Hyperactivity Broad forehead Cerebral calcification Aggressive behavior Osteopenia High forehead Autism Everted lower lip vermilion Brachycephaly Facial asymmetry Posteriorly rotated ears Clinodactyly of the 5th finger Absent speech Midface retrusion Telangiectasia Delayed speech and language development Cleft palate Telecanthus Anxiety Thin vermilion border Joint hyperflexibility Anemia Long face Downturned corners of mouth Genu recurvatum Wormian bones Dementia Gynecomastia Wide anterior fontanel Acne Hypogonadism Premature loss of teeth Peripheral demyelination Gingival overgrowth Neoplasm Short phalanx of finger Double outlet right ventricle Hydrocephalus Megalocornea Cholelithiasis Aseptic necrosis Congenital glaucoma Short chin Delayed cranial suture closure Osteolysis Flared metaphysis Dysarthria Abnormality of the metacarpal bones Anorexia Short long bone Gait disturbance Tricuspid regurgitation Thickened skin Delayed eruption of teeth Leukodystrophy Severe postnatal growth retardation Hemoglobin H Hypoganglionosis Abnormality of the skeletal system Congestive heart failure Chorioretinitis Retinal pigment epithelial mottling Pectus excavatum CNS demyelination Glaucoma Respiratory failure Proptosis Menstrual irregularities Skeletal dysplasia Coarse facial features Protruding ear Bowing of the long bones Joint stiffness Camptodactyly of finger Large hands Corneal opacity Genu valgum Hirsutism Neoplasm of the skin Recurrent infections in infancy and early childhood Broad nasal tip Full cheeks Atherosclerosis Hip dysplasia Mitral valve prolapse Interphalangeal joint contracture of finger Abnormally large globe Neonatal hypotonia Beaking of vertebral bodies Bifid uvula Tracheoesophageal fistula Prominent supraorbital ridges Short metatarsal Microcornea Horseshoe kidney Narrow face Abnormality of the hair Preauricular skin tag Hypoplasia of the iris Severe failure to thrive Hallucinations Stereotypy Short metacarpal Round face Postural instability Premature graying of hair Recurrent fractures Oral cleft Finger syndactyly Feeding difficulties in infancy Reduced alpha/beta synthesis ratio Abnormality of the kidney Abnormal peripheral myelination Low-set, posteriorly rotated ears Subcortical white matter calcifications Cerebellar calcifications Short neck Syndactyly Pes planus Cleft lip High pitched voice Esophageal atresia Concave nasal ridge Anterior concavity of thoracic vertebrae Buphthalmos Overfriendliness Anterior segment developmental abnormality Vacuolated lymphocytes Thoracolumbar kyphosis Broad alveolar ridges Hyperplasia of the maxilla Multiple skeletal anomalies Broad clavicles Difficulty walking Prominent coccyx Serpentine fibula High axial triradius Cortical irregularity Oppositional defiant disorder Delusions Microphthalmia Anterior open-bite malocclusion Cat cry High-pitched cry Hyperacusis Abnormality of bone mineral density Congenital cataract Functional respiratory abnormality Auditory hallucinations Facial grimacing Echolalia Short attention span Diastasis recti Stenosis of the external auditory canal Endometriosis Type I transferrin isoform profile Widely-spaced maxillary central incisors Wide nose Short palpebral fissure Fine hair Intellectual disability, profound Decreased testicular size Convex nasal ridge Prominent nose Ectodermal dysplasia Sleep disturbance Thick eyebrow Thin skin Bulbous nose Arachnodactyly Talipes Poor speech Abnormality of the foot Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Joint laxity Hemiparesis Broad-based gait Narrow mouth Abnormality of digit Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Broad thumb Myopathic facies Bilateral talipes equinovarus Overlapping toe Abnormality of dental morphology Relative macrocephaly Oligodontia Long eyelashes Dental crowding Thin upper lip vermilion Hyperhidrosis Overbite Poor appetite Elevated serum acid phosphatase Periodic hypokalemic paresis Diaphyseal sclerosis Proximal renal tubular acidosis Distal renal tubular acidosis Cranial hyperostosis Extramedullary hematopoiesis Osteopetrosis Renal tubular acidosis Hypothyroidism Osteomalacia Restrictive ventilatory defect Abnormal lung morphology Metabolic acidosis Hepatosplenomegaly Acidosis Visual loss Visual impairment Optic nerve compression Blepharophimosis Long philtrum Aplasia/Hypoplasia of the nipples Behavioral abnormality Frontal bossing Macrocephaly Hyperreflexia Ptosis Bipolar affective disorder Schizophrenia Chordee Hypoplastic nipples Stage 5 chronic kidney disease Telangiectasia of the skin Congenital sensorineural hearing impairment Bifid scrotum Abnormal dermatoglyphics Renal dysplasia Renal hypoplasia Pancytopenia Hypoplasia of penis Wide intermamillary distance Excessive salivation Pes valgus Triangular mouth Hydronephrosis Abnormality of the genital system Ambiguous genitalia Renal agenesis Macroglossia Tapered finger Flat face Microtia Irritability Abdominal pain Aganglionic megacolon Pneumonia Constipation Abnormality of metabolism/homeostasis Short nose Vomiting Dysphagia Pain Reduced protein S activity Recurrent urinary tract infections Coxa valga Reduced antithrombin III activity Chronic constipation Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Hypochromic microcytic anemia Decreased serum testosterone level Volvulus Facial hypotonia Hemivertebrae Male pseudohermaphroditism Shawl scrotum Protruding tongue Microcytic anemia Hydroureter Spastic diplegia Radial deviation of finger Infantile muscular hypotonia Reduced protein C activity Abnormal macular morphology Happy demeanor Cerebellar atrophy Abnormal pyramidal sign Apnea Abnormality of the eye Elevated hepatic transaminase EEG abnormality Gait ataxia Elevated serum creatine phosphokinase Recurrent infections Myopathy Dysmetria Edema Narrow jaw Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Muscular dystrophy High, narrow palate Hypoglycosylation of alpha-dystroglycan Increased variability in muscle fiber diameter Pontocerebellar atrophy Abnormal myelination Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Trigonocephaly Delayed myelination Abnormality of vision Hemangioma Venous thrombosis Truncal ataxia Cerebral visual impairment Decreased liver function Postnatal microcephaly Progressive neurologic deterioration Intention tremor Thymic hormone decreased


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