Intellectual disability, severe, and Osteosarcoma

Diseases related with Intellectual disability, severe and Osteosarcoma

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

Top matches:

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Other less relevant matches:

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

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 SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Vomiting Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Downslanted palpebral fissures Anemia High palate Cataract Growth delay Neoplasm Micrognathia Abnormal facial shape Cryptorchidism Talipes equinovarus Global developmental delay Frontal bossing Microcephaly Skin rash Hearing impairment Cleft palate Muscular hypotonia Diarrhea Flexion contracture Hernia Osteoporosis Hypertelorism Macroglossia Delayed eruption of teeth Intrauterine growth retardation Broad ribs High forehead Broad forehead Scoliosis Hydrocephalus Absent thumb Narrow chest Fatigue Glaucoma Short thumb Hydronephrosis Failure to thrive Sparse hair Carcinoma Umbilical hernia Leukemia Dilatation Hypopigmentation of the skin Poikiloderma Feeding difficulties Generalized hypotonia

Rare Symptoms - Less than 30% cases

Hyperextensible skin Metaphyseal widening Dental crowding Coarse hair Protruding tongue Flat forehead Congestive heart failure Ventricular septal defect Thrombocytopenia Abnormal heart morphology Bruising susceptibility Abnormal cardiac septum morphology Nausea and vomiting Webbed neck Low-set, posteriorly rotated ears Congenital cataract Bladder diverticulum Joint hypermobility Ptosis Brachydactyly Venous insufficiency Epicanthus Wide nasal bridge Hypothermia Exostoses Short neck Long philtrum Atypical scarring of skin Patent ductus arteriosus Retrognathia Abnormality of the kidney Pectus carinatum Pancytopenia Spina bifida occulta Hypoplasia of the radius Behavioral abnormality Joint laxity Jaundice Bilateral radial aplasia Inguinal hernia Motor delay Myopia Brachycephaly Absent radius Malabsorption Pectus excavatum Bowing of the long bones Carpal synostosis Short humerus Large fontanelles Joint hyperflexibility Intellectual disability, profound Cutis laxa Chronic diarrhea Wormian bones Narrow face Delayed cranial suture closure Thickened skin Everted upper lip vermilion Sensorineural hearing impairment Hypertension Abnormality of the face Short nose Mandibular prognathia Hip dislocation Anal atresia Short palm Anteriorly placed anus Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the patella Rectovaginal fistula Headache Alopecia Acantholysis Anemia of inadequate production Chromosome breakage Hypertrichosis Nausea Overgrowth Malar flattening Abnormality of skin pigmentation Erythema Acute myeloid leukemia Concave nasal ridge Micropenis Atrial septal defect Prominent forehead Osteopenia Hyperkeratosis Choanal stenosis Hypogonadism Proptosis Myelodysplasia Sarcoma Edema Nystagmus Lymphoma Basal cell carcinoma Squamous cell carcinoma Telangiectasia Sparse scalp hair Visual impairment Increased intracranial pressure Cutaneous photosensitivity Pain Genu valgum Hypopigmentation of hair Platyspondyly Abnormality of lipid metabolism Prolonged neonatal jaundice Long face Scarring Abnormality of the pinna Tarsal synostosis Hyperhidrosis Pes planus Gastroesophageal reflux Renal insufficiency Dolichocephaly Abnormal carotid artery morphology Woolly hair Abnormality of the dentition Multiple joint dislocation Spontaneous hematomas Arterial stenosis Metaphyseal spurs Trichorrhexis nodosa Prominent occiput Therapeutic abortion Hypocupremia Aplasia/Hypoplasia of the abdominal wall musculature Skeletal muscle atrophy Chondrocalcinosis Pili torti Dysphagia Intellectual disability, mild Kyphosis Ewing sarcoma Opisthotonus Cerebral atrophy Dry skin Severe global developmental delay Feeding difficulties in infancy Developmental regression Hypoglycemia Melanoma Dementia Erythroderma Hypertonia Recurrent fractures Cerebellar atrophy Striae distensae Dysarthria Spasticity Muscle weakness Severe vision loss Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Neurodegeneration Sepsis Osteomyelitis Joint dislocation Myopathic facies Cerebral hemorrhage Mask-like facies Intracranial hemorrhage Abnormal palate morphology Shock Postnatal growth retardation Spastic tetraparesis Abnormal blistering of the skin Full cheeks Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Fine hair Tetraparesis Eczema Generalized-onset seizure Gastrointestinal hemorrhage Chorea High, narrow palate Hepatitis Hip dysplasia Coarse facial features Bilateral sensorineural hearing impairment Thick vermilion border Hirsutism Short distal phalanx of finger Thick eyebrow Bulbous nose Synophrys Wide mouth Protruding ear Hepatosplenomegaly Macrotia Thick lower lip vermilion Polyhydramnios Dyspnea Polydactyly Posteriorly rotated ears Splenomegaly Cardiomyopathy Macrocephaly Hepatomegaly Humerus varus Carotid artery tortuosity Small nail Nephrolithiasis Abnormality of esophagus physiology Thin bony cortex Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Dystrophic fingernails Gingival overgrowth Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Growth abnormality Hemangioma Accelerated skeletal maturation Intellectual disability, progressive Hemivertebrae Generalized hirsutism Aortic rupture Ureteral obstruction Convex nasal ridge Bilateral ptosis Abnormality of the skull Hiatus hernia Soft skin Short clavicles Acute kidney injury Dislocated radial head Osteomalacia Orthostatic hypotension Limited elbow extension Rickets Redundant skin Esophagitis Poor suck Osteolysis Coxa vara Coxa valga Recurrent urinary tract infections Cholestasis Blue sclerae Carpal bone aplasia Cerebral calcification Specific learning disability Down-sloping shoulders Premature skin wrinkling Persistent open anterior fontanelle Synostosis of joints Limited knee extension Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Broad clavicles Long neck Absent tibia Abnormality of the wrist Abnormality of the sense of smell Keloids Gastroparesis Aplastic clavicle Thick hair Femoral hernia Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Generalized joint laxity Midface capillary hemangioma Ulnar bowing Persistent cloaca Postural instability Hydrops fetalis Depressed nasal ridge Visual loss Coarctation of aorta Premature birth Neutropenia Cleft upper lip Weight loss Lethargy Pallor Abnormal dermatoglyphics Cleft lip Anorexia Neurofibromas Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Cellulitis Hypochromic anemia Bone marrow hypocellularity Blindness Hypochromic microcytic anemia Increased mean corpuscular volume Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Choroid plexus papilloma Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Aplastic anemia Abnormality of the hand 11 pairs of ribs Hypoplastic ilia Thrombocytosis Macrocytic anemia Myeloid leukemia Choroid plexus carcinoma Vertebral fusion Colon cancer Congenital glaucoma Triphalangeal thumb Asymmetry of the thorax Aplasia/Hypoplasia of the earlobes Elevated red cell adenosine deaminase activity Burkitt lymphoma Leiomyosarcoma Respiratory distress Soft tissue sarcoma Anteverted nares Leukocoria Malar rash Glioblastoma multiforme Fibrosarcoma Depressed nasal bridge Vitritis Obesity Histiocytoma Liposarcoma Sebaceous gland carcinoma Neoplasm of the eye Hyphema Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Anisocoria Hypospadias Brain neoplasm Uveitis Myelomeningocele Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Abnormality of the genital system Ocular pain Talipes Acute monocytic leukemia Neurological speech impairment Astrocytoma Microtia Buphthalmos Inflammatory abnormality of the eye Retinoblastoma Intellectual disability, moderate Vitreous hemorrhage Hypoplastic anemia Bifid thoracic vertebrae Limited shoulder movement Acrokeratosis Narrow nasal bridge Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Failure to thrive in infancy Abnormality of the metacarpal bones Lamellar cataract Abnormal vertebral morphology Renal dysplasia Fibular hypoplasia Low-set ears Hypotelorism Underdeveloped nasal alae Prominent nose Vesicoureteral reflux Bifid uvula Polymicrogyria Facial asymmetry Prominent nasal bridge Craniosynostosis Oligodactyly Aplasia/Hypoplasia of the radius Narrow mouth Limited elbow movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Pineal cyst Lambdoidal craniosynostosis Hand oligodactyly Abnormality of the ureter Patellar hypoplasia Anterior plagiocephaly Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Coronal craniosynostosis Shallow orbits Alopecia of scalp Conductive hearing impairment Agenesis of corpus callosum Transient erythroblastopenia Nail dystrophy Short palpebral fissure Microdontia Growth hormone deficiency Hypodontia Microcornea Short foot Small hand Flat face Loss of consciousness Upper limb undergrowth Neoplasm of the skin Corneal opacity Small for gestational age Skeletal dysplasia Kyphoscoliosis Papilledema Microphthalmia Broad neck Papilloma Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Congenital hip dislocation Dermal atrophy Abnormality of cardiovascular system morphology Annular pancreas Recurrent infections Optic atrophy Midface retrusion Depressivity Pneumonia Forearm reduction defects Zonular cataract Respiratory failure Juvenile cataract Duodenal stenosis Pyloric stenosis Iris atrophy Skin erosion Patellar aplasia Apnea Proportionate short stature Sleep apnea Increased number of teeth Skin vesicle Agenesis of permanent teeth Premature graying of hair Mesiodens


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