Hearing impairment, and Osteosarcoma

Diseases related with Hearing impairment and Osteosarcoma

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

Top matches:

Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of BoneAlso see PDB2 (OMIM ), caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q21; PDB4 (OMIM ), mapped to chromosome 5q31; PDB5 (OMIM ), caused by mutation in the TNFRSF11B gene (OMIM ) on chromosome 8q24; and PDB6 (OMIM ), caused by mutation in the ZNF687 gene (OMIM ) on chromosome 1q21.Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Bone pain
  • Osteolysis


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 3; PDB3

Medium match RETINOBLASTOMA; RB1

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

Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Other less relevant matches:

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

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

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

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

Top 5 symptoms//phenotypes associated to Hearing impairment and Osteosarcoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Osteosarcoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Anemia Cataract Abnormal facial shape Skin rash Seizures Depressed nasal bridge Sarcoma Abnormality of the skeletal system Talipes equinovarus Short nose Malar flattening Cryptorchidism Micrognathia Hydrocephalus Poikiloderma Cleft palate Strabismus

Rare Symptoms - Less than 30% cases

Hyperkeratosis Alopecia Mandibular prognathia Nail dystrophy Choanal stenosis Feeding difficulties High forehead Delayed eruption of teeth Flexion contracture Growth delay Macroglossia Neoplasm of the skin Facial asymmetry Anal atresia Aplasia/Hypoplasia of the thumb Cutaneous photosensitivity Downslanted palpebral fissures Flat forehead Midface retrusion Pneumonia Abnormality of the kidney Low-set, posteriorly rotated ears Respiratory failure Hydronephrosis Epicanthus Short thumb High palate Bilateral radial aplasia Aplasia/Hypoplasia of the patella Rectovaginal fistula Micropenis Broad forehead Anteriorly placed anus Absent thumb Hypogonadism Absent radius Blindness Glaucoma Chromosome breakage Pain Microcephaly Neurofibromas Headache Myelodysplasia Increased intracranial pressure Lymphoma Carcinoma Proptosis Elevated alkaline phosphatase Nystagmus Hypotelorism Patchy osteosclerosis Oxycephaly Anterior plagiocephaly Patellar hypoplasia Hand oligodactyly Limited elbow movement Lambdoidal craniosynostosis Craniosynostosis Ulnar bowing Brachyturricephaly Metopic synostosis Abnormality of the carpal bones Urogenital fistula Aplasia of metacarpal bones Sagittal craniosynostosis Bicoronal synostosis Visual impairment Perineal fistula Limited shoulder movement Persistent cloaca Carpal bone aplasia Midface capillary hemangioma Anomalous splenoportal venous system Aphalangy of the hands Unilateral radial aplasia Splenomegaly Fractures of the long bones Increased susceptibility to fractures Recurrent respiratory infections Abnormal localization of kidney Rib fusion Bilateral conductive hearing impairment Tracheoesophageal fistula Underdeveloped nasal alae Bowing of the long bones Renal dysplasia Prominent nose Large fontanelles Vesicoureteral reflux Abnormal vertebral morphology Narrow face Spina bifida occulta Abnormality of the metacarpal bones Hypoplasia of the radius Failure to thrive in infancy Trigonocephaly Hypoplasia of the ulna Pancytopenia Hallux valgus Narrow nasal bridge Short humerus Oligodactyly Bifid uvula Fibular hypoplasia Aplasia/Hypoplasia of the radius Polymicrogyria Malabsorption Carpal synostosis Prominent nasal bridge Shallow orbits Coronal craniosynostosis Abnormal cardiac septum morphology Abnormality of the ureter Liposarcoma Respiratory tract infection Pectus carinatum Webbed neck Bruising susceptibility Talipes Congenital cataract Neurological speech impairment Microtia Intellectual disability, moderate Dental crowding Retrognathia Patent ductus arteriosus Hypospadias Obesity Hernia Long philtrum Respiratory distress Abnormality of the genital system Short toe Anteverted nares Brain neoplasm Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Myelomeningocele Spina bifida Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Short neck Fatigue Carious teeth Increased antibody level in blood Atrial septal defect Low-set ears Subungual hyperkeratosis Blepharitis Wheezing Atrophic scars Conjunctivitis Depressivity Recurrent pneumonia Recurrent otitis media Eczema Otitis media Asthma Palmoplantar keratoderma Neutropenia Recurrent infections Osteolysis Wide nasal bridge Broad ribs Ptosis Muscular hypotonia Failure to thrive Global developmental delay Choroid plexus carcinoma Choroid plexus papilloma Papilloma Broad neck Bone pain Papilledema Upper limb undergrowth Loss of consciousness Sleep apnea Hypertrichosis Nausea Apnea Cough Prominent forehead Conductive hearing impairment Hyperthyroidism Pituitary adenoma Prolactin excess Increased circulating cortisol level Syringomyelia Growth hormone excess Osteomalacia Hyperparathyroidism Intestinal polyposis Freckling Abnormality of the thyroid gland Pathologic fracture Hypophosphatemia Adrenal insufficiency Hyperostosis Pituitary hypothyroidism Craniofacial hyperostosis Rickets Large cafe-au-lait macules with irregular margins Soft tissue sarcoma Sensorineural hearing impairment Leukocoria Malar rash Glioblastoma multiforme Monostotic fibrous dysplasia Precocious puberty in females Ovarian cyst Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Acne Hypercalcemia Anisocoria Pineoblastoma Hypothyroidism Hyperactivity Vitritis Congestive heart failure Histiocytoma Neuroblastic tumors Retinal calcification Synophrys Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Autoimmunity Burkitt lymphoma Precocious puberty Decreased liver function Hypercalciuria Goiter Fibrosarcoma Nephrocalcinosis Aspiration Gynecomastia Cafe-au-lait spot Infertility Tall stature Nephrolithiasis Primary amenorrhea Amenorrhea Nevus Abdominal distention Hirsutism Leiomyosarcoma Hypertension Narrow mouth Patellar aplasia Annular pancreas Duodenal stenosis Iris atrophy Abnormality of skin pigmentation Skin erosion Acantholysis Postural instability Leukemia Concave nasal ridge Anorexia Proportionate short stature Increased number of teeth Skin vesicle Agenesis of permanent teeth Juvenile cataract Zonular cataract Premature graying of hair Behavioral abnormality Brachycephaly Sebaceous gland carcinoma Agenesis of corpus callosum Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Ventricular septal defect Forearm reduction defects Visual loss Optic atrophy Intrauterine growth retardation Myopia Motor delay Weight loss Scoliosis Basal cell carcinoma Squamous cell carcinoma Ocular pain Astrocytoma Small for gestational age Sparse hair Erythema Skeletal dysplasia Kyphoscoliosis Acute monocytic leukemia Osteoporosis Hip dislocation Buphthalmos Microphthalmia Inflammatory abnormality of the eye Diarrhea Retinoblastoma Vitreous hemorrhage Corneal opacity Anemia of inadequate production Pyloric stenosis Microdontia Dermal atrophy Congenital hip dislocation Cellulitis Telangiectasia Short palpebral fissure Acute myeloid leukemia Growth hormone deficiency Flat face Hypodontia Microcornea Hypopigmentation of the skin Uveitis Short foot Small hand Short palm Neurocytoma


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