Abnormal facial shape, and Osteosarcoma

Diseases related with Abnormal facial shape and Osteosarcoma

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


Top matches:

Medium match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium match POIKILODERMA WITH NEUTROPENIA


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

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Other less relevant matches:

Medium match PAPILLOMA OF CHOROID PLEXUS; CPP


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

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

Medium match MCCUNE-ALBRIGHT SYNDROME; MAS


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

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


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

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Medium match BALLER-GEROLD SYNDROME


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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Osteosarcoma

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Osteosarcoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Hyperkeratosis Alopecia Cataract Myelodysplasia Anemia Vomiting Sarcoma Blindness Frontal bossing Short nose Osteoporosis Hypertension Micrognathia Neoplasm of the skin Congestive heart failure Narrow face Hypertelorism Glaucoma Proptosis Premature graying of hair Cleft palate Strabismus Carcinoma Hydrocephalus Abnormality of the skeletal system Respiratory failure Poikiloderma Growth delay

Rare Symptoms - Less than 30% cases


Lymphoma Short thumb Visual impairment Hypopigmentation of the skin Small hand Abnormality of the testis White forelock Anal atresia Delayed eruption of teeth Abnormal hair whorl Subcutaneous calcification Leukemia Increased intracranial pressure Choanal stenosis Pain Neoplasm of the small intestine Neoplasm of the oral cavity Soft tissue sarcoma Chromosome breakage Nystagmus Neurofibromas Premature arteriosclerosis Facial asymmetry Peripheral arterial stenosis Dermal atrophy Aplasia/Hypoplasia of the skin Abnormality of the voice Abnormality of the thorax Rocker bottom foot Chondrocalcinosis Lack of skin elasticity Decreased fertility Lipoatrophy Telangiectasia of the skin Increased bone mineral density Secondary amenorrhea Ovarian neoplasm Prematurely aged appearance Neoplasm of the lung Progeroid facial appearance Meningioma Renal neoplasm Laryngomalacia Abnormality of the hair Squamous cell carcinoma Hydronephrosis Abnormality of the cerebral vasculature Absent thumb Anteriorly placed anus Aplasia/Hypoplasia of the thumb Absent radius Pili torti Rectovaginal fistula Bilateral radial aplasia Skin ulcer Skeletal muscle atrophy Behavioral abnormality Diabetes mellitus Retinal degeneration Convex nasal ridge Type II diabetes mellitus Decreased body weight Abnormality of retinal pigmentation Aplasia/Hypoplasia of the patella Short palm Micropenis Cryptorchidism Respiratory tract infection Nail dystrophy Mandibular prognathia Depressivity Flat face Pneumonia Midface retrusion Malar flattening Depressed nasal bridge Pathologic fracture Cutaneous photosensitivity Intrauterine growth retardation Seizures Diarrhea Hypophosphatemia Neutropenia Hypothyroidism Recurrent infections Eczema Headache Talipes equinovarus Feeding difficulties Hypotrichosis Pes planus Hoarse voice Failure to thrive Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Gastrointestinal carcinoma Hypergonadotropic hypogonadism Abnormality of the foot Delayed puberty Genu valgum Poliosis Spontaneous abortion Type I diabetes mellitus Congenital cataract Lipodystrophy Thin vermilion border Hyperinsulinemia Sparse body hair Glycosuria Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Calf muscle hypertrophy Hyperglycemia Premature ovarian insufficiency Reduced bone mineral density Hepatic steatosis Finger clinodactyly Aortic valve stenosis Thin skin Hypertriglyceridemia Mitral valve prolapse Hip dysplasia Short metacarpal Limitation of joint mobility Narrow nasal ridge Chorioretinitis Peripheral nerve compression Subcapsular cataract Pelvic bone exostoses Enchondroma Rib exostoses Myeloid leukemia Scleroderma Scapular exostoses Protuberances at ends of long bones Alopecia of scalp Madelung-like forearm deformities Polyphagia High pitched voice Polyuria Melanoma Breast carcinoma Polydipsia Premature loss of teeth Atherosclerosis Cutaneous melanoma Fragile nails Immunodeficiency Arteriosclerosis Enlarged joints Thyroid carcinoma Coxa vara Slender build Hemangioma Short finger Osteochondroma Macular degeneration Exostoses Madelung deformity Chondrosarcoma Multiple exostoses Cervical myelopathy Posterior subcapsular cataract Pulmonary artery stenosis Insulin-resistant diabetes mellitus Abnormal hair quantity Osteolytic defects of the phalanges of the hand Oligodactyly Bilateral conductive hearing impairment Rib fusion Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Short humerus Abnormal localization of kidney Narrow nasal bridge Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Sagittal craniosynostosis Oxycephaly Large fontanelles Aplasia of metacarpal bones Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Flat forehead Anterior plagiocephaly Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Abnormal vertebral morphology Renal dysplasia Prominent superficial veins Patchy hypo- and hyperpigmentation Optic atrophy Myopia Epicanthus Motor delay High palate Scoliosis Abnormality of circulating leptin level Sclerosis of hand bone Progressive clavicular acroosteolysis Ventricular septal defect Intervertebral disc degeneration Neoplasm of the thyroid gland Abnormality of the Achilles tendon Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Generalized lipodystrophy Abnormality of the pulmonary artery Exercise-induced myalgia Downslanted palpebral fissures Abnormality of cardiovascular system morphology Bowing of the long bones Prominent nasal bridge Pancytopenia Hypotelorism Underdeveloped nasal alae Prominent nose Vesicoureteral reflux Bifid uvula Polymicrogyria Malabsorption Broad forehead Abnormal cardiac septum morphology Thrombocytopenia Craniosynostosis Abnormality of the kidney Low-set, posteriorly rotated ears Conductive hearing impairment Narrow mouth Brachycephaly Prominent forehead Agenesis of corpus callosum Abnormal heart morphology Postnatal growth retardation Decreased testicular size Dry skin Ewing sarcoma Palmoplantar keratoderma Asthma Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Hyphema Autoimmunity Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Hyperactivity Synophrys Leukocoria Gynecomastia Rickets Hypercalcemia Precocious puberty Elevated alkaline phosphatase Hypercalciuria Goiter Nephrocalcinosis Aspiration Decreased liver function Carious teeth Cafe-au-lait spot Tall stature Nephrolithiasis Primary amenorrhea Amenorrhea Nevus Abdominal distention Hirsutism Infertility Malar rash Otitis media Hyperostosis Broad neck Blepharitis Subungual hyperkeratosis Microcephaly Choroid plexus carcinoma Choroid plexus papilloma Papilloma Broad ribs Low-set ears Papilledema Atrophic scars Upper limb undergrowth Loss of consciousness Sleep apnea Hypertrichosis Macroglossia Nausea Apnea Atrial septal defect Wheezing Visual loss Leiomyosarcoma Anemia of inadequate production Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Acute monocytic leukemia Uveitis Weight loss Acute myeloid leukemia Cellulitis Recurrent otitis media Anorexia Recurrent pneumonia Postural instability Abnormality of skin pigmentation Conjunctivitis Increased antibody level in blood Acne Adrenal insufficiency Insulin resistance Proportionate short stature Iris atrophy Abnormal intestine morphology Skin erosion Acantholysis Patellar aplasia Recurrent skin infections Concave nasal ridge Erythroderma Autoimmune hemolytic anemia Annular pancreas Atopic dermatitis Increased number of teeth Skin vesicle Severe intrauterine growth retardation Agenesis of permanent teeth Basal cell carcinoma Protein-losing enteropathy Folliculitis Duodenal stenosis Juvenile cataract Erythroid dysplasia Nephropathy Ichthyosis Lymphadenopathy Sparse scalp hair Myocardial infarction Hemolytic anemia High forehead Chest pain Coma Retinopathy Lymphopenia Joint stiffness Inflammatory abnormality of the skin Rod-cone dystrophy Abnormal lung morphology Abnormality of the dentition Bronchiectasis Peripheral neuropathy Forearm reduction defects Zonular cataract Pyloric stenosis Congenital hip dislocation Abnormality of the thyroid gland Intestinal polyposis Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Ovarian cyst Craniofacial hyperostosis Pituitary hypothyroidism Precocious puberty in females Pituitary adenoma Prolactin excess Increased circulating cortisol level Syringomyelia Growth hormone excess Osteomalacia Hyperthyroidism Hyperparathyroidism Freckling Polyostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Telangiectasia Corneal opacity Short palpebral fissure Microdontia Growth hormone deficiency Hypodontia Microcornea Splenomegaly Short foot Hip dislocation Small for gestational age Monostotic fibrous dysplasia Sparse hair Erythema Skeletal dysplasia Kyphoscoliosis Recurrent respiratory infections Microphthalmia Flexion contracture Sensorineural hearing impairment Cough Unilateral radial aplasia



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