Intellectual disability, severe, and Sinusitis

Diseases related with Intellectual disability, severe and Sinusitis

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

Top matches:

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

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

Other less relevant matches:

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

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 SYNDROME

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Sinusitis

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
Generalized hypotonia Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Seizures Hearing impairment Pneumonia Failure to thrive Muscular hypotonia Cataract High forehead Macroglossia Low-set ears Spasticity Immunodeficiency Abnormal facial shape Otitis media Hydronephrosis Abnormality of the skeletal system Malar flattening Ataxia Thick vermilion border Recurrent respiratory infections Umbilical hernia Recurrent infections Motor delay Delayed speech and language development Hypothyroidism Coarse facial features Epicanthus Anxiety Scoliosis Thick lower lip vermilion Cognitive impairment Spastic diplegia Feeding difficulties Macrocephaly Hypertelorism Midface retrusion Pain Depressivity Flat face Intellectual disability, mild Gastroesophageal reflux Anemia Diarrhea

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Dental malocclusion Microtia Ventricular septal defect Clinodactyly Hypospadias Abnormality of metabolism/homeostasis Cerebral atrophy Short nose Talipes equinovarus Aganglionic megacolon Wide nasal bridge Flexion contracture Cryptorchidism Sensorineural hearing impairment Growth delay Microcephaly Recurrent urinary tract infections Cardiomyopathy Aspiration Broad nasal tip Thickened calvaria Respiratory tract infection Micrognathia Recurrent sinusitis Bronchiectasis Progressive hearing impairment Mutism Thin vermilion border Cellular immunodeficiency Myopathy Tetraplegia Spastic tetraplegia Lymphopenia Recurrent bacterial infections Autoimmune hemolytic anemia Autoimmune thrombocytopenia Combined immunodeficiency Decrease in T cell count Lumbar hyperlordosis Palpebral edema Cerebral calcification Protruding tongue Shawl scrotum Hyperlordosis Hepatomegaly Skeletal dysplasia Short neck Blindness Psychosis Behavioral abnormality Splenomegaly Long philtrum Visual loss Severe short stature Brachycephaly Nyctalopia Platyspondyly Angiokeratoma corporis diffusum Posteriorly rotated ears Impaired T cell function Obesity Joint laxity Wide mouth Constipation Abnormality of the eye Long face Large fontanelles Large forehead Cerebral cortical atrophy Overgrowth Hyperactivity Pectus excavatum Intellectual disability, moderate Macroorchidism Atrial septal defect Strabismus Frontal bossing High palate Dilatation Sepsis Neoplasm Abnormality of neutrophils Irregular vertebral endplates Abnormality of chromosome stability Encephalitis Narrow nose Chronic bronchitis Agammaglobulinemia Communicating hydrocephalus Bronchitis Vitiligo Malnutrition Recurrent pneumonia Decreased antibody level in blood Neurodegeneration Barrel-shaped chest Systemic lupus erythematosus Downslanted palpebral fissures Cleft palate Abnormality of cardiovascular system morphology Prominent forehead Metaphyseal irregularity Rheumatoid arthritis Clinodactyly of the 5th finger Hypermelanotic macule Abnormal heart morphology Scleroderma Patent ductus arteriosus Headache Ptosis Polyhydramnios Malabsorption Abnormality of the dentition Basal ganglia calcification Nephritis Hydrocephalus Hypoplasia of the corpus callosum Ventriculomegaly Restrictive ventilatory defect Syndactyly Recurrent corneal erosions Juvenile rheumatoid arthritis Elevated serum creatine phosphokinase Abnormality of the liver Hypertrophic cardiomyopathy Carcinoma Myalgia Proximal muscle weakness Elevated hepatic transaminase Deeply set eye Hypoglycemia Thin upper lip vermilion Congestive heart failure Cirrhosis Skeletal muscle atrophy Muscle weakness Arthralgia/arthritis Abnormality of B cell physiology Lymph node hypoplasia Brain abscess Cerebral vasculitis Recurrent opportunistic infections Abnormal T cell morphology Scarring Metaphyseal sclerosis Ketotic hypoglycemia Progressive muscle weakness Periportal fibrosis Micronodular cirrhosis Skeletal myopathy Retrognathia Ketosis Immune dysregulation Hyperlipidemia Decreased liver function Hepatic fibrosis Hypertriglyceridemia Hepatic failure Ventricular hypertrophy Epistaxis Spondylometaphyseal dysplasia Cardiomegaly Full cheeks Tubulointerstitial fibrosis Madelung deformity Progressive spastic quadriplegia Distal amyotrophy Purpura Fibular hypoplasia Rhizomelia Microretrognathia Ectopic anus Thoracic dysplasia Broad ribs Facial paralysis White forelock Delayed closure of the anterior fontanelle Fibular aplasia Otosclerosis Osteolysis Thoracolumbar kyphosis Sclerosis of skull base Misalignment of teeth Asymmetry of the thorax Narrow palate Spontaneous abortion Flexion contracture of toe Rough bone trabeculation Broad clavicles Alobar holoprosencephaly Laryngotracheomalacia Large iliac wings Autoimmune neutropenia Echolalia Osteopetrosis Spina bifida Hyperostosis Submucous cleft hard palate Natal tooth Partial agenesis of the corpus callosum Mixed hearing impairment Visual field defect Tracheomalacia Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Flat occiput Pierre-Robin sequence Nephroblastoma Overfolded helix Metaphyseal widening Increased susceptibility to fractures Pyloric stenosis Ankylosis Nasal speech Cutaneous syndactyly Holoprosencephaly Spina bifida occulta Multicystic kidney dysplasia Craniofacial osteosclerosis Abnormal lung morphology Craniosynostosis Intestinal malrotation Bifid uvula Delayed eruption of teeth High, narrow palate Cleft upper lip Arachnodactyly Anal atresia Ophthalmoplegia Dolichocephaly Broad forehead Paralysis Abnormality of the cerebral white matter Apnea Camptodactyly Facial palsy Cleft lip Micromelia Lymphadenopathy Conductive hearing impairment Hemolytic anemia Hepatitis Anal stenosis Webbed neck Autoimmunity Laryngeal web Osteopathia striata Increased bone mineral density Joint contracture of the hand Aortic valve stenosis Unilateral facial palsy High iliac wings Abnormal vertebral morphology Dental crowding Facial hyperostosis Omphalocele Abnormality of the metaphysis Open mouth Abnormality of the skin Metaphyseal striations Straight clavicles Paranasal sinus hypoplasia Thrombocytopenia Coarctation of aorta Oligohydramnios Narrow forehead Arthralgia Specific learning disability Arthritis Wide intermamillary distance Recurrent otitis media Visceromegaly Pure red cell aplasia Anosmia Hypothermia Abnormal eyelid morphology Congenital hypothyroidism Prolonged neonatal jaundice Abnormality of the thyroid gland Tracheoesophageal fistula Intestinal obstruction Growth abnormality Abnormality of vision Goiter Oligodontia Pseudohypoparathyroidism Reduced tendon reflexes Abnormality of the hair Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Depressed nasal ridge Hypotension Abdominal distention Sleep disturbance Oral cleft Anterior hypopituitarism Primary hypothyroidism Paresthesia Hypertonia Abnormality of the genital system Ambiguous genitalia Renal agenesis Tapered finger Everted lower lip vermilion Postnatal growth retardation Irritability Telecanthus Micropenis Abdominal pain Vomiting Thyroid hypoplasia Dysphagia Brachydactyly Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Dry skin Feeding difficulties in infancy Hemivertebrae Facial asymmetry Premature ovarian insufficiency Relative macrocephaly Hyperkinesis Narrow face Hyperpigmentation of the skin Heterotopia Mitral valve prolapse Round face Postural instability Joint hypermobility Neurological speech impairment Self-injurious behavior Attention deficit hyperactivity disorder Autistic behavior Protruding ear Aggressive behavior Neonatal hypotonia Pes planus Macrotia Mandibular prognathia Autism Absent speech Chronic otitis media Large hands Jaundice Encopresis Hypogonadism Arrhythmia Optic atrophy Hypertension Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Oppositional defiant disorder Abnormality of neuronal migration Periventricular gray matter heterotopia Abnormal head movements Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Poor eye contact Broad palm Polyphagia Coxa valga Drooling Hypouricemia Angiokeratoma Abnormality of dental enamel Hallucinations Clumsiness Progressive visual loss Rod-cone dystrophy Aspartylglucosaminuria Angiofibromas Oligosacchariduria Spondylolysis Methemoglobinemia Cranial asymmetry Abnormal electroretinogram Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Abnormality of the ovary Spondylolisthesis Broad face Beaking of vertebral bodies Dysostosis multiplex Muscle fibrillation Schizophrenia Aplasia/Hypoplasia of the cerebellum Emotional lability Abnormal cochlea morphology Recurrent viral infections Recurrent lower respiratory tract infections Recurrent upper respiratory tract infections Spastic tetraparesis Tetraparesis Lymphoma Abnormal pyramidal sign Babinski sign Tremor Absent vestibular function Vestibular hypofunction Vestibular dysfunction Subcortical cerebral atrophy Hemianopia Tapetoretinal degeneration Undetectable electroretinogram Chronic sinusitis Peripheral visual field loss Iris hypopigmentation Severe hearing impairment High hypermetropia Scotoma Decreased fertility Pathologic fracture Acne Infantile muscular hypotonia Ileus Nystagmus Hypoganglionosis Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Perimembranous ventricular septal defect Gait disturbance Hypochromic microcytic anemia Decreased serum testosterone level Volvulus Chronic constipation Facial hypotonia Male pseudohermaphroditism Microcytic anemia Hydroureter Radial deviation of finger Tented upper lip vermilion Hyperreflexia Edema Widely spaced teeth Generalized myoclonic seizures Intellectual disability, progressive Hoarse voice Hydrops fetalis Gingival overgrowth Chronic diarrhea Involuntary movements Mitral regurgitation Progressive neurologic deterioration Neuronal loss in central nervous system Gliosis Ascites Kyphosis Neutropenia Wide nose Erythema Developmental regression Mental deterioration Hepatosplenomegaly Gait ataxia Myoclonus Delayed skeletal maturation Inguinal hernia Hernia Hypopigmented skin patches on arms


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