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Goldenhar Syndrome Support Network Society
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Site Last updated:
January 22, 2006
FACE EYE EAR NECK ABDOMINAL WALL BACK RESPIRATORY
CARDIOVASCULAR GASTROINTESTINAL GENITOURINARY SKIN AND ADNEXA
ARMS HANDS/FINGERS LEGS FEET/TOES CENTRAL NERVOUS SYSTEM SKELETAL
Mandibular Ramus Asymmetry: unequal or underdevelopment of the bones below the ear of the lower jaw bone, usually affects only one side, but may affect both sides, with one side more severely affected.
Maxilla Hypoplasia: Underdevelopment of the upper jaw bone.
Zygoma Hypoplasia: Underdevelopment of the cheek bone and muscles of mastication (chewing food in preparation for swallowing and digestion) and facial expression.
Macrostomia: Greatly exaggerated width of the mouth, resulting from failure of union of the upper jaw bone and lower jaw bone processes, with extension of the mouth opening toward the ear.
Agenesis of the Parotid Gland: Incomplete or failure of development of the salivary gland situated in front of and below the ear.
Hypoplasia of Palatal: Underdevelopment of the muscles of the palate and tongue muscles.
Antimongoloid slant: The condition in which the side portion of the eyelid cleft or slit is lower than the center portion.
Epicanthal folds: The upward fold of the skin (in a crescent shape) from the lower eyelid at the inner corner of the eye.
Anomaly of the eyelid: Deviation from the average or norm; anything that is structurally unusual or irregular or contrary to a general rule. Congenital defects are an example of the definition of anomaly.
Upper and lower lid coloboma: Any defect, congenital.
Iris coloboma: Defect of the Iris.
Optic nerve coloboma: Congenital notch in the formation of the optic nerve.
Ocular Drainage Abnormalities
Ptosis: A sinking down or prolapse of the eyelid.
Exophthalmos: Protrusion of one or both eyeballs; can be congenital and familial.
Exotropia: The outward or wandering of an eye.
Malposition of the orbit: Abnormal position of the bone cavity containing the eyeball.
Obstructed/stenotic lacrimal duct: A blockage /a stricture of tear ducts.
Epiphora: An overflow of tears upon the cheek, due to imperfect drainage by the tear-conducting passages. Tearing, watery eye.
Microphthalmia: Abnormal smallness of the eye.
Anophthalmia: Congenital absence of all tissues of the eyes.
Cornea anomaly: The outer transparent tissue of the eye; deviation from the norm.
Cataracts: Loss of transparency of the lens of the eye.
Glaucoma: A disease of the eye characterized by increased intraocular pressure, excavation, and atrophy of the optic nerve; produces defects in the field of vision.
Motility disorder: Lack of power of spontaneous movement/eye.
Strabismus or Esotropia: A manifest lack of parallelism of the visual axes of the eye. SYN: crossed eyes.
Esotropia: The form of strabismus in which the visual axes converge.
Nystagmus: Rythmical movement of the eyeballs, either pendular or jerky.
Epibulbar dermoids: Eyeball cysts
Lipodermoids: Congenital, yellowish-white fatty, benign tumor located subconjunctivally.
Marked deviations from the normal standard
Preauricular skin tags: poorly developed and non-functional outgrowths of ear tissue, often containing a core cartilage, usually located just in front of the ear.
Anotia: no ear.
Dysmorphic: malformed ear.
Slightly Narrowed External Auditory Canals.
Atretic External Auditory Canals: abnormally closed or absent.
Conductive Hearing Loss: a form of deafness that results from a blockage of the ear canal or dysfunction of the ossicles or eardrum.
Branchial cartilage: Connective tissue within the vertebrate or embryonic brachial arches.
Branchial fistula: A congenital abnormal passage in the neck resulting incomplete closure of a branchial cleft.
Webbing: Congenital condition apparent when adjacent structures are joined by a broad band of tissue not normally present to such a degree.
Short neck: Self explanatory.
Anomalies of sternocleidomastoid: Deviation from the norm of the relation of the sternum, clavicle and mastoid process.
Umbilical hernia: The bowel protrudes through the abdominal wall.
Inguinal hernia: Rupture of the groin.
Diastasis rectu: Separation of rectus abdominis muscles away from the midline.
Pilonidal dimple: An indentation, usually circular in small area/sacral region.
Stridor: A high-pitched, noisy respiration, like the blowing of the wind.
Cardiomegaly: Enlargement of the heart.
Cardiac vessel anomalies: Heart vessel deviation from the average or the norm
Ventricular hypertrophy: Enlarged ventricle of heart.
Atrial Septal defects: A congenital defect in the septum between atria of the heart, due to the failure of the foramen primum or secundum to close normally.
Ventricular septal defects: A congenital defect in the septum (membrane or muscular) between cardiac ventricles , usually resulting from failure of the spiral septum to close the interventricular foramen.
Tetralogy of fallot: A set of congenital cardiac defects including ventricular septal defect, pulmonic valve stenosis, and dextropositon of the aorta so that it overrides the venticular septum and receives venous as well as arterial blood.
B: Deviation from the average or norm - relating to one or more arteries.
Aortic stenosis: A narrowing of aortic valve opening.
Pulmonary artery anomalies: A deviation from the average or norm/pulmonary arteries.
Tracheoesophageal atresia: A congenital failure of the full esophageal lumen to develop.
Tracheoesophageal fistula: A congenital abnormality involving a communication between the trachea and esophagus; often associated with esophageal atresia, but may also be acquired.
Digestive tract anomalies: Congenital deviations from the norm/digestive tract.
Anal anomalies: Congenital deviation from the norm of the anal (lower opening of digestive tract, lying in the cleft between the buttocks, through which fecal matter is extruded).
Hypospadias: A developmental anomaly characterized by a defect on the ventrum of the penis.
Hydrocele: A collection of serous fluid in a sacculated cavity; specifically, such a collection in the tunica vaginalis testis, or in a separate pocket along the spermatic cord.
Chordee: Ventral curvature of the penis, most apparent on erection.
Undescended testes: Has failed to descend into the scrotum.
Scrotum anomalies: Congenital deviation from the average/norm of the scrotum., a musculocutaneous sac containing the testes.
Kidney anomalies: Congenital deviation from the average/norm of the kidneys.
Low posterior hairline: Low back surface of the hairline.
Preauricular hair tags: Anterior to the auricle of the ear/small outgrowths of hair.
Coloboma /missing portion of eyebrow: A congenital defect /missing portion of eyebrow.
Hirsutism: Presence of excessive bodily and facial terminal hair, in a male pattern, especially in women.
Nevus: A limited or confined malformation of the skin, especially if colored by hyperpigmentation or increased vascularity.
Hyperpigmentation: An excess of pigment in a tissue or part.
Nail anomalies: A deviation from the average/norm nails.
Radius anomalies: Bone of the forearm/deviation from the average/norm.
Joint anomalies: Joint deviation from the average/norm.
Clubbing of fingers: A condition affecting the fingers in which proliferation of distal tissues, especially the nail beds, result in thickening and widening of the extremities of the fingers; the nails are abnormally curved and shiny.
Brachydactyly: Abnormal shortness of the fingers.
Polydactyly: Presence of more than five fingers on hand.
Clinodactyly: Permanent deflection of one or more fingers.
Phalangeal anomalies: One of the long bones of the finger/deviation from the norm.
Thumb anomaly: Deviation of the thumb from the norm.
Abnormal dermatoglyphics: Abnormal configuration of the characteristic ridge patterns of the palm of the hand.
Single horizontal palmar crease: Single horizontal crease in palm of hand.
Abnormal tibia/fibula:
Abnormal tibia: The center and larger of the two bones of the leg.
Abnormal fibula: The side and smaller of the two bones of the leg.
Abnormal femur: Abnormal thigh bone.
Tendon problems: Fibrous cord or band of variable length that connects a muscle with its bony attachment or other structure.
One Leg Longer
One Leg Shorter
Abduction contractures: A shortening or increase in tension; denoting the normal function of muscular tissue/in movement of legs.
Clubbing of toes: Thickening and widening of the extremities of the toes; the nails are abnormally curved and shiny.
Brachydactyly: Abnormal shortness of toes.
Ectrodactyly: Congenital absence of all or part of one or more toes. Known also as split-foot deformity, lobster claw.
Clinodactyly: Permanent deflection of one or more toes.
Missing digits: Missing toes.
Overlapping toes
Rocker bottom feet
Abnormal foot position
Varus deformity: Legs bent or twisted inward toward the midline of the limb or body.
Metatarsus adductus: A fixed deformity of the foot in which the forepart of the foot is angled away from the main longitudinal axis of the foot toward the midline; usually congenital in origin.
Cranial nerve anomalies: Those nerves that emerge from, or enter, the cranium or skull, in contrast to the spinal nerves, which emerge from the spine or vertebral column; that deviate from the average or norm.
Mental retardation: Sub-average general intellectual functioning that originates during the development period and is associated with impairment in adaptive behavior.
Epilepsy/seizures: A chronic disorder characterized by sharp spasm or convulsion brain dysfunction. Usually associated with some alteration of consciousness.
Cerebral palsy: Defect of motor power and coordination related to damage of the brain.
EEG abnormality: Abbreviation for electroencephalogram abnormality.
Hypotonia: Reduced tension in any part, as in the eyeball. Relaxation of the arteries.
Hypertonia: Extreme tension of the arteries.
Gait abnormality: Abnormal manner of walking.
Cervical fusion: Relating to a neck, or cervix, in any sense, union.
Cranio-cervical base anomalies: Skull-neck base deviations from the average or norm.
C-1 anomalies
Hemivertebrae: A congenital defect of the spine in which one side of a vertebra fails to develop completely.
Scolios: Abnormal lateral curvature of the vertebral column.
Kyphosis: A deformity of the spine characterized by extensive flexion. Syn: Hunchback
Kyphscoliosis: Kyphosis combined with scoliosis.
Sprengel's deformity: Congenital elevation of the scapula.
Clavicle abnormality: Collar bone abnormality.
Dislocated hip
Rib abnormality
Spina Bifida occulta: A bifida in which there is a spinal defect, but no protrusion of the cord or its membrane, although there is often some abnormality in their development.
Muscle weakness
Delayed puberty
Obesity
Adrenal abnormality: Near or upon the kidney; denoting the suprarenal (adrenal) gland, which is abnormal.