Cognitive impairment, and Hypoplasia of the maxilla

Diseases related with Cognitive impairment and Hypoplasia of the maxilla

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


Top matches:

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

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low 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

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Other less relevant matches:

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Low 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

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match SHPRINTZEN-GOLDBERG SYNDROME


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

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hypoplasia of the maxilla. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cleft palate Brachydactyly Seizures Muscular hypotonia Camptodactyly of finger Low-set ears High palate Scoliosis Thin upper lip vermilion Abnormality of cardiovascular system morphology Joint laxity Abnormal facial shape Cryptorchidism Hypertelorism Abnormal heart morphology Microcephaly Autism Atrial septal defect Gastroesophageal reflux Hypothyroidism Prominent forehead Frontal bossing Dilatation Myopia Pectus excavatum Joint hyperflexibility Wide nasal bridge Clinodactyly of the 5th finger Interphalangeal joint contracture of finger Brachycephaly High forehead Dental malocclusion Apnea Craniosynostosis Constipation High, narrow palate Clinodactyly Behavioral abnormality Hyperactivity Upslanted palpebral fissure Smooth philtrum Protruding ear Broad forehead Aggressive behavior Growth delay Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Inguinal hernia Intrauterine growth retardation Ventricular septal defect Umbilical hernia Prominent nasal bridge Triangular face Intellectual disability, mild Delayed speech and language development Short palm Mandibular prognathia Downslanted palpebral fissures Failure to thrive Macrocephaly Hearing impairment Feeding difficulties in infancy Abnormality of the skeletal system Small for gestational age Hypermetropia Delayed eruption of teeth Microdontia Small hand

Rare Symptoms - Less than 30% cases


Talipes equinovarus Dental crowding Intellectual disability, severe Aortic aneurysm Hyperreflexia Abnormality of the genitourinary system Anteriorly placed anus Abnormality of the voice Broad thumb Nasal speech Short philtrum Babinski sign Micropenis Arachnodactyly Neurological speech impairment Posteriorly rotated ears Expressive language delay Anxiety Long philtrum Short neck Anteverted nares Short foot Dysarthria Obsessive-compulsive behavior Prolonged QT interval Disproportionate tall stature Sudden cardiac death 2-3 toe syndactyly Bifid uvula Ventricular arrhythmia Joint stiffness Oligodontia Ventricular tachycardia Infantile muscular hypotonia Cardiac arrest Patent foramen ovale Hypoplasia of dental enamel Wide mouth Trigonocephaly Language impairment Syncope Broad nasal tip Slender finger Arrhythmia Speech apraxia Low frustration tolerance Conductive hearing impairment Syndactyly Depressivity Telecanthus Retrognathia Torsade de pointes Dilated cardiomyopathy Dolichocephaly Toe syndactyly Thin vermilion border Bulbous nose Autistic behavior Aortic root aneurysm Ptosis Hydronephrosis Abnormality of the fingernails Abnormality of dental morphology Short distal phalanx of finger Hepatomegaly Intestinal malrotation Hydrocephalus Delayed skeletal maturation Malar flattening Joint hypermobility Proptosis Sleep apnea Downturned corners of mouth Narrow palate Hypospadias Abnormality of the nail Abnormal cardiac septum morphology Malabsorption Feeding difficulties Postnatal growth retardation Abnormality of the face Narrow chest Blue sclerae Patent ductus arteriosus Growth hormone deficiency Prominent nose Carious teeth Anemia Underdeveloped nasal alae Intellectual disability, moderate Spondylolisthesis Hypocalcemia Hypoplasia of penis Genu recurvatum Poor speech Round face Hyperextensible skin Dysphagia Delayed eruption of permanent teeth Single transverse palmar crease Epicanthus Deeply set eye Abnormality of the clavicle Pes planus Agenesis of permanent teeth Hypertension Uterus didelphys T-wave alternans Frontal upsweep of hair Skin dimples Diabetes mellitus Abnormality of the nares Abnormal direction of ventricular apex Sensorineural hearing impairment Septate vagina Severe short stature Fatigue Absent lacrimal punctum Alopecia Increased VLDL cholesterol concentration Cardiomyopathy Colonic diverticula Frontal balding Abnormality of dental color Edema Short nose Hydroureter Lacrimation abnormality Elevated hepatic transaminase Hyperbilirubinemia Sparse scalp hair Cholestasis Hypopituitarism Cafe-au-lait spot Glycosuria Situs inversus totalis Pointed chin Steatorrhea Hypoplastic nipples Severe muscular hypotonia Widely spaced teeth Portal hypertension Clitoral hypertrophy Congenital sensorineural hearing impairment Dextrocardia Biventricular hypertrophy Convex nasal ridge Facial cleft Aplasia cutis congenita of scalp Abnormality of the pancreas Cutaneous syndactyly of toes Cleft lip Abnormal vagina morphology Abnormality of the liver Hypotrichosis Anal atresia Hepatic failure Abdominal distention Anal stenosis Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Generalized muscle weakness Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Atrioventricular dissociation Fragile skin Anasarca Long eyelashes Celiac disease High pitched voice Preauricular pit Impulsivity Clubbing Abnormality of the hand Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Recurrent otitis media Short clavicles Short palpebral fissure Low posterior hairline Apraxia Coarctation of aorta Otitis media Hirsutism Arthritis Kyphoscoliosis Headache Vomiting Gait disturbance Proportionate short stature Sprengel anomaly C1-C2 vertebral abnormality Short upper lip Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Spinal dysraphism Lipoma Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Enlarged joints 11 pairs of ribs Villous atrophy Enuresis Short attention span Short columella Cone-shaped epiphyses of the phalanges of the hand Neoplasm Minimal subcutaneous fat Malrotation of small bowel Genu valgum 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 Choanal atresia Mitral valve prolapse Abnormality of the foot Ectopia lentis Pectus carinatum Abnormality of the pinna Camptodactyly Osteopenia Hernia Respiratory distress Ventriculomegaly Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Arnold-Chiari malformation Metaphyseal widening Hallux varus Cloverleaf skull Cranial asymmetry Abdominal wall muscle weakness Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Lateral clavicle hook Dermal translucency Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Communicating hydrocephalus Elbow dislocation Missing ribs Microglossia Obstructive sleep apnea Shallow orbits Arnold-Chiari type I malformation Dislocated radial head Thin ribs Hypothermia Abnormality of the sternum Metatarsus adductus Hammertoe Perimembranous ventricular septal defect Oral-pharyngeal dysphagia Amelogenesis imperfecta Long face Schizophrenia Aplasia/Hypoplasia of the corpus callosum Short chin Narrow face Hallucinations Anorexia Open mouth Psychosis Agenesis of corpus callosum Emotional lability Flexion contracture Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Persistence of primary teeth Deep philtrum Long nose Low back pain Wide nose Reduced tendon reflexes Abnormal palate morphology Scapular winging Bilateral single transverse palmar creases Short phalanx of finger Palpitations Specific learning disability Febrile seizures Short metacarpal Limb muscle weakness Narrow nasal bridge Elevated serum creatine phosphokinase Abnormally folded helix Cat cry Oppositional defiant disorder Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Abnormal pattern of respiration Small face Short metatarsal Broad foot Osteoporosis Midface retrusion Kyphosis Splenomegaly Pain Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline External ear malformation Hepatosplenomegaly Megalocornea Shawl scrotum Broad palm Everted lower lip vermilion Oral cleft Cleft upper lip Talipes Finger syndactyly Congestive heart failure Skeletal dysplasia Hyperlordosis Ridged nail Osteolysis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the vertebral column Prominent occiput Osteomyelitis Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Wormian bones Recurrent fractures Increased bone mineral density Short toe Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Small nail Abnormality of the skin Hypodontia Postural instability Growth abnormality Myotonia Protruding tongue Distal lower limb amyotrophy Depressed nasal bridge Talipes calcaneovarus Small forehead Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Facial hypotonia Immunodeficiency Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Decreased body weight Decreased testicular size Tapered finger Myopathy Recurrent infections Paraplegia Bradycardia Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures Ventricular fibrillation Atrioventricular block Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Sinusitis Encephalopathy Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Esotropia Coma Hip dislocation Hypertrophic cardiomyopathy Hypoglycemia Pneumonia Falls Spastic paraplegia Right bundle branch block Short mandibular rami Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short digit Neonatal hypotonia Clinodactyly of the 5th toe First degree atrioventricular block Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction T-wave inversion Left bundle branch block Ventricular extrasystoles Short finger EEG abnormality Abnormality of the kidney Macrotia Abnormality of chromosome segregation Absent speech Spasticity Receptive language delay Central sleep apnea Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Echolalia Delayed myelination Bipolar affective disorder Poor eye contact High hypermetropia Dysphasia Open bite Failure to thrive in infancy Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Mesocardia



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