Depressed nasal bridge, and Sarcoma

Diseases related with Depressed nasal bridge and Sarcoma

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Sarcoma that can help you solving undiagnosed cases.


Top matches:

Medium match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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

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

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Other less relevant matches:

Medium match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


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

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Sarcoma

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Sarcoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short nose Intrauterine growth retardation Malar flattening Micrognathia Short neck Macrocephaly Microcephaly Epicanthus Intellectual disability Anteverted nares Growth delay Hypospadias Cleft palate Wide nasal bridge Failure to thrive Retrognathia Frontal bossing Seizures Downslanted palpebral fissures Midface retrusion Posteriorly rotated ears Low-set ears Hydrocephalus Hyperactivity Respiratory failure Intellectual disability, moderate Hearing impairment Long philtrum Small for gestational age Cataract Nevus Amenorrhea Primary amenorrhea Agenesis of corpus callosum Telecanthus Cryptorchidism Cafe-au-lait spot Feeding difficulties Muscular hypotonia Acute lymphoblastic leukemia High palate Freckling Strabismus Osteosarcoma Ventriculomegaly Leukemia

Rare Symptoms - Less than 30% cases


Broad forehead Nystagmus Hydronephrosis Generalized hypotonia Dental crowding Fibroma Absent septum pellucidum Aplasia/Hypoplasia of the skin Astigmatism Proptosis Abnormality of the nervous system Brachydactyly Cachexia Premature ovarian insufficiency Hyperpigmentation of the skin Micropenis Immunodeficiency Arthrogryposis multiplex congenita Depressivity Respiratory distress Respiratory insufficiency Hypoplastic nasal bridge Alveolar ridge overgrowth Gingival fibromatosis Generalized osteosclerosis Osteopetrosis Abnormality of neuronal migration Increased bone mineral density Micromelia Talipes Macroglossia Choanal atresia Protruding tongue Clinodactyly Acute leukemia Upslanted palpebral fissure Brachycephaly High forehead Ambiguous genitalia Nephroblastoma Combined immunodeficiency Rhabdomyosarcoma Low-set, posteriorly rotated ears Talipes equinovarus Hypoplasia of the corpus callosum Patent ductus arteriosus Hypophosphatemia Prominent forehead Narrow mouth Severe short stature Flexion contracture Neurofibromas Facial asymmetry Abdominal distention Ptosis Alopecia Infertility Pneumonia Recurrent respiratory infections Mandibular prognathia Elevated alkaline phosphatase Muscle weakness Hypogonadism Congestive heart failure Otitis media Myelodysplasia Recurrent pneumonia Cutaneous photosensitivity Webbed neck Splenomegaly Axillary freckling Relative macrocephaly Bowing of the long bones Aplasia/Hypoplasia of the earlobes Brain neoplasm Myelomeningocele Wide mouth Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Radial deviation of finger Supernumerary nipple Polycystic kidney dysplasia Spina bifida Short toe Delayed speech and language development Abnormality of the genital system Bruising susceptibility Congenital cataract Hypochromic microcytic anemia Asymmetry of the thorax Atrial septal defect Motor delay Diabetes mellitus Pectus excavatum Edema Cardiomyopathy Dyspnea Dysarthria Hepatomegaly Neurocytoma Hypochromic anemia Triangular nasal tip Low posterior hairline Hemoglobin H Reduced alpha/beta synthesis ratio Apnea Protruding ear Flat forehead Neurological speech impairment Microtia Large fontanelles Wide intermamillary distance Choanal stenosis Obstructive sleep apnea Depressed nasal ridge Natal tooth Mixed hearing impairment Thoracic hypoplasia Delayed cranial suture closure Hydroureter Long hallux Abnormality of the genitourinary system Sleep apnea Plagiocephaly Narrow palate Wide anterior fontanel Gingival overgrowth Hypoplasia of dental enamel Median cleft lip and palate Brachyturricephaly Pectus carinatum Microdontia Bulbous nose Pulmonary hypoplasia Abnormality of the kidney Downturned corners of mouth Highly arched eyebrow Pulmonic stenosis Specific learning disability Cerebral calcification Mandibular aplasia Obesity Hernia Fatigue Anemia Craniofacial disproportion Metaphyseal sclerosis Bilateral choanal atresia Hepatosplenomegaly Rickets Retinopathy Telangiectasia Abnormality of the musculature Long nose Non-midline cleft lip Deep philtrum Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Bronchiectasis Neuroblastoma Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Sloping forehead Convex nasal ridge Prominent nose Lymphoma Neurodegeneration Autoimmune hemolytic anemia Anal stenosis Cleft upper lip B lymphocytopenia Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Decrease in T cell count Hearing abnormality Abnormal hair quantity Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Hemolytic anemia Anal atresia Dolichocephaly Pigmentary retinopathy Scoliosis Reduced tendon reflexes Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Epidermal acanthosis Type II diabetes mellitus Overgrowth Pulmonary fibrosis Cyanosis Growth hormone deficiency Decreased antibody level in blood Triangular face Ascites Hypodontia Cirrhosis Abnormality of the dentition High pitched voice Slender long bone Prominent nasal bridge Constrictive pericarditis Attention deficit hyperactivity disorder Mental deterioration Macrotia Thrombocytopenia Diarrhea Skeletal muscle atrophy Ataxia Pericardial constriction Hypoplastic frontal sinuses Pericarditis J-shaped sella turcica Absent frontal sinuses Peripheral edema Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Delayed puberty Abnormality of cholesterol metabolism Cubitus valgus Hamartoma Lower limb asymmetry Eyelid coloboma Transient ischemic attack Arachnoid cyst Abnormality of the ureter Aplasia cutis congenita Generalized hyperpigmentation Synophrys Epispadias Multiple lipomas Abnormality of the ear Opacification of the corneal stroma Lymphedema Aganglionic megacolon Short palpebral fissure Coarctation of aorta Abnormality of the cardiovascular system Abnormality of nervous system morphology Bladder exstrophy Hirsutism Anisometropia Wheezing Blepharitis Poikiloderma Subungual hyperkeratosis Blindness Vomiting Hypothyroidism Ossifying fibroma Gastrointestinal atresia Autoimmunity Abnormal conjunctiva morphology Exstrophy Laryngeal hypoplasia Epidermal nevus Abnormality of the bladder Parietal bossing Abnormality of the penis Epibulbar dermoid Short palm Stroke Increased antibody level in blood Syringomyelia Ovarian cyst Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Pituitary adenoma Prolactin excess Increased circulating cortisol level Growth hormone excess Hamartomatous polyposis Osteomalacia Hyperthyroidism Hyperparathyroidism Abnormality of the thyroid gland Pathologic fracture Hypercalcemia Adrenal insufficiency Hyperostosis Pseudohypoparathyroidism Multinodular goiter Coloboma Nephrocalcinosis Blepharophimosis Polyhydramnios Nephrolithiasis Tall stature Abnormality of cardiovascular system morphology Decreased liver function Gynecomastia Aspiration Neoplasm of the skin Myelofibrosis Goiter Hypercalciuria Precocious puberty Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Atrophic scars Cerebellar hypoplasia Dysphagia Muscle stiffness Cupped ear Dermal atrophy Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Microretrognathia Finger clinodactyly Optic nerve glioma Prominent nasolabial fold Joint contracture of the hand Rhizomelia Pachygyria Status epilepticus Limb undergrowth Renal agenesis Intestinal malrotation Bifid uvula Metatarsus adductus Bilateral talipes equinovarus Pectus excavatum of inferior sternum Total anomalous pulmonary venous return Visual impairment Multiple cafe-au-lait spots 2-4 toe syndactyly Broad neck Secundum atrial septal defect Acne Macrogyria Ambiguous genitalia, female Abnormality of earlobe Partial agenesis of the corpus callosum Ambiguous genitalia, male Lisch nodules Anomalous pulmonary venous return Abnormality of the nose Abnormal cortical gyration Large earlobe Superior pectus carinatum Submucous cleft hard palate Polymicrogyria Inguinal freckling Conjunctivitis Generalized myoclonic seizures Bifid scrotum Asthma Limb-girdle muscular dystrophy Intellectual disability, profound Oligohydramnios Dandy-Walker malformation Renal cyst Severe intrauterine growth retardation Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Eczema Postnatal growth retardation Feeding difficulties in infancy Recurrent otitis media Palmoplantar keratoderma Multiple renal cysts Toe syndactyly Nail dystrophy Rigidity Hyperkeratosis Clinodactyly of the 5th finger Respiratory tract infection Syndactyly Hypertonia Skin rash Cough Spasticity Neutropenia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Carious teeth Short sternum Mild microcephaly Progressive vitiligo



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