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Symptoms » Deep-set eyes » Glossary
 

Glossary for Deep-set eyes

Medical terms related to Deep-set eyes or mentioned in this section include:

  • Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Amaurosis Congenita of Leber, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Amaurosis Congenita of Leber, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber, type 6: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q11, RPGRIP1 gene.
  • Amaurosis congenita of Leber, type 7: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 19q13.3, CRX gene.
  • Amaurosis congenita of Leber, type 8: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q31-q32.1, CRB1 gene.
  • Amaurosis congenita of Leber, type 9: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1p36, LCA9 gene.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Arthrogryposis: A condition which is characterized by the persistent flexure of a joint
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Bone symptoms: Symptoms affecting the body's bones
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
  • Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
  • Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 1q21.1 Deletion Syndrome: A rare chromosomal disorder caused by the deletion of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were mental retardation and various physical anomalies. The manifestations in individuals is quite variable.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting 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 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
  • Cystic fibrosis -- gastritis -- megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
  • De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deafness -- craniofacial syndrome: A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face.
  • Deep-set eyes in children: Deep-set eyes in children occur when the eyes of a child appear to be placed deeply in the skull.
  • Del (1) (pter-p36.3) mosaicism: A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing in some body cells. The type and severity of symptoms is variable.
  • Del (2) (q37.3-qter) and dup (8) (q24.3-qter)): 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.
  • Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. 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.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features: A rare disorder characterized by hearing impairment, facial and hair anomalies.
  • Eye symptoms: Symptoms affecting the eye
  • Face symptoms: Symptoms affecting the face
  • Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
  • Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
  • Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Growth symptoms: Symptoms related to poor or excessive growth.
  • Head symptoms: Symptoms affecting the head or brain
  • Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
  • Hypoparathyroidism -- short stature -- mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
  • Infant symptoms: Symptoms affecting babies and infants.
  • Intellectual deficit -- cataracts -- calcified pinnae -- myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Kalam-Hafeez syndrome: A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures.
  • Kurz syndrome: A rare syndrome characterized by blindness at birth with some long distance vision, sunken eyes, lack of pupil reflexes and occasionally mental retardation may eventuate.
  • Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron syndrome type 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron syndrome type 2: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron-type dwarfism: A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
  • Leber Congenital Amaurosis, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Leber congenital amaurosis, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene
  • Leber congenital amaurosis, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene
  • Leber congenital amaurosis, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Mental retardation syndrome, Belgian type: A rare form of mental retardation reported in a Belgian family.
  • Mental retardation, X-linked -- cubitus valgus -- typical face: A rare disorder characterized by mental retardation, unusual facial appearance and a turned out elbow (cubitus valgus). The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
  • Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
  • Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
  • Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Oculomelic amyoplasia: A rare genetic disorder characterized by limb contractures (tightening of muscles which limits movement) from birth and eye abnormalities.
  • Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
  • Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
  • Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
  • Richieri Costa Guion-Almeida syndrome: A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
  • SHORT Syndrome: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay.
  • Short stature -- prognathism -- short femoral necks: A very rare syndrome characterized mainly by short stature, protruding jaw and a hip anomaly.
  • Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
  • Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Smith-Magenis Syndrome: A rare syndrome characterized by various developmental problems as well as various physical defects primarily affecting the head and the face.
  • Thrombocytopathy -- asplenia -- miosis: A very rare syndrome characterized by a lack of spleen function, reduced blood platelets and contracted pupils.
  • Trichorhinophalangeal Syndrome Type II:
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
  • Type III Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage

Conditions listing medical symptoms: Deep-set eyes:

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