Glossary for Ocular hypertelorism in children
Medical terms related to Ocular hypertelorism in children or mentioned in this section include:
- Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
- Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
- Behavioral symptoms: Symptoms of personal behavior.
- Bone symptoms: Symptoms affecting the body's bones
- Child health symptoms: Symptoms related to pediatric (child) health.
- 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.
- Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
- Cognitive impairment: General loss of mental or cognitive ability
- Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
- Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
- Crouzon Syndrome: A condition which is characterized by craniofacial dysostosis
- Developmental problems: Physical or mental development difficulty.
- DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
- Eye symptoms: Symptoms affecting the eye
- Face symptoms: Symptoms affecting the face
- 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.
- Head symptoms: Symptoms affecting the head or brain
- Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
- LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
- Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
- Megalencephaly: Megalencephaly refers to an unusually large, heavy brain that functions abnormally.
- Meningoencephalocele: A very rare developmental disorder where a part of the membrane that covers the brain and or part of the brain itself protrudes through an abnormal opening in the skull. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
- Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
- Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
- Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
- Ocular pain: Conditions of the eye which can cause pain.
- Opitz syndrome: A rare genetic disorder characterized by wide-set eyes, hypospadias and swallowing difficulties.
- Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
- Skull symptoms: Symptoms affecting the skull surrounding the brain.
- Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
- Waardenburg syndrome: A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation.
Conditions listing medical symptoms: Ocular hypertelorism in children:
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