Glossary for Broad nose

Medical terms related to Broad nose or mentioned in this section include:

• 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
• Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
• Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
• Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
• Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
• Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
• Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
• Branchio-skeleto-genital syndrome: A rare inherited disorder characterized by mental retardation, jaw anomalies, cleft palate, sunken chest and other abnormalities.
• Breath symptoms: Breath-related symptoms including breath odor
• Breathing symptoms: Symptoms affecting the breathing systems.
• Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• Chromosome 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
• Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
• Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, Monosomy 8p2: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
• Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
• Deafness symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Developmental problems: Physical or mental development difficulty.
• Diabetes insipidus primary central: A rare dominantly inherited form of diabetes insipidus. It is caused by the progressive degeneration of a part of the hypothalamus which reduces the production of a hormone called arginine vasopressin.
• Double Upper and Lower Lip -- Hypertelorism -- Ptosis -- Blepharophimosis -- clinodactyly: A very rare syndrome characterized y double lip involving the upper and lower lip, wide set eyes, droopy eyelids, blepharophimosis and abnormally curved fifth fingers.
• Dup (2) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Dup (2) (q11.2-q13): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
• Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Face symptoms: Symptoms affecting the face
• Facial dysmorphism -- shawl scrotum -- joint laxity syndrome: A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Fetal Valproate Syndrome: A condition affecting the fetus caused by the medication valproate
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
• Frontonasal dysplasia: A very rare disorder involving head and face abnormalities primarily due to a groove down the midline of the face which may affect parts or all of the face.
• Frontonasal dysplasia -- Klippel Feil syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Head symptoms: Symptoms affecting the head or brain
• Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by a forearm abnormaity, heart defect and an eye anomaly called blepharophimosis.
• Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Hydrocephaly low insertion umbilicus: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
• Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
• Hypothyroidism postaxial polydactyly mental retardation: A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance.
• Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
• Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
• Jung-Wolff-Back-Stahl syndrome: A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies.
• Malouf syndrome: A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.
• Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
• McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
• Meningeal angiomatosis -- cleft hypoplastic left heart: A very rare genetic disorder characterized by an underdeveloped left heart and abnormal brain development.
• Mental mixed retardation -- deafness -- clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• Mental retardation -- short stature -- cleft palate -- unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
• Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation syndrome, Belgian type: A rare form of mental retardation reported in a Belgian family.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Microcephaly brachydactyly kyphoscoliosis: A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Mouth symptoms: Symptoms of the mouth or oral area.
• Mullerian derivatives -- lymphangiectasia -- polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Multiple synostoses syndrome 1: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms.
• Multiple synostoses syndrome 2: A rare disorder characterized by multiple fusions involving various bones in the body such as the fingers, toes and elbow.
• Narrow oral fissure -- short stature -- cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Noonan-like syndrome: A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
• Nose conditions: Any condition that affects the nose
• Nose symptoms: Symptoms affecting the nose
• Oromandibular-limb hypogenesis spectrum: A rare disorder characterized by a spectrum of disorders.
• Oto-Palato-Digital Syndrome:
• Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
• Palmer-Pagon syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
• Pseudopapilledema -- blepharophimosis -- hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Renal dysplasia -- limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Respiratory symptoms: Symptoms affecting the breathing systems.
• Rhizomelic dysplasia Patterson Lowry type: A very rare syndrome characterized mainly by short upper arm and thigh bones.
• Richieri Costa Guion Almeida Cohen syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, facial anomalies and various other abnormalities.
• Sackey-Sakati-Aur syndrome: A very rare syndrome characterized mainly by a blood disorder and various congenital anomalies such as short stature and a thumb abnormality.
• Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Say-Field-Coldwell syndrome: A very rare syndrome characterized mainly by fingerlike thumbs and a dislocated kneecap.
• Seghers syndrome: A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
• Short stature -- prognathism -- short femoral necks: A very rare syndrome characterized mainly by short stature, protruding jaw and a hip anomaly.
• Simpson Dysmorphia Syndrome:
• Simpson-Golabi-Behmel syndrome: A rare genetic disorder characterized by accelerated growth and other defects.
• Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
• Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
• Skull symptoms: Symptoms affecting the skull surrounding the brain.
• Spondyloepimetaphyseal dysplasia, genevieve type: A recessively inherited disorder characterized mainly by abnormal bone development (epiphyses, metaphyses and vertebrae) as well as mental retardation. The abnormalities become progressively worse with age.
• Stoll-Geraudel-Chauvin syndrome: A very rare syndrome characterized mainly by short stature, mental retardation and wide set eyes.
• Strudwick syndrome: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Thanos syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus).
• Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
• Throat symptoms: Symptoms affecting the throat
• Toe syndactyly, telecanthus, and anogenital and renal malformations: A rare X-linked syndrome characterized by webbed toes, telecanthus and kidney, genital and anal malformations.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Urioste Martinez-Frias syndrome: A syndrome characterised by multiple abnormalities
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Vertebral body fusion overgrowth: A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait
• Viljoen Kallis Voges syndrome:
• Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Webster Deming syndrome: A craniofrontonasal dysplasia that is x-linked in inheritance
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• Zechi-Ceide Syndrome: A rare syndrome characterized mainly by a brain anomaly, unusual facial appearance and large feet. The three observed siblings were born to related parents and the range of anomalies was variable amongst them.

Conditions listing medical symptoms: Broad nose:

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