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Glossary for Blepharophimosis, ptosis, epicanthus inversus

  • 14qter deletion Syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acromegaloid facial appearance syndrome: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Blepharochalasia -- double lip: A very rare syndrome characterized y blepharochalasis and a double lip.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation: A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth.
  • Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
  • Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
  • Bone conditions: Conditions that affect the bones
  • Chromosome 14q terminal deletion syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 14qter deletion: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 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 involved.
  • Chromosome 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • 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 3q21-23: A very rare chromosomal disorder involving the deletion of a part of the long arm of chromosome 3 which results mainly in eye abnormalities.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
  • Del (2) (p13-p11): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (p14.2-p11): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q23): 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.
  • Del (3) (q21-q23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q21.3-q22.3): 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.
  • Del (3) (q22.2-q23): 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.
  • 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.
  • Droopy eye-lid: Droopiness of the eyelids (ptosis)
  • Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
  • Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
  • Dup (3) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (q24-q41): A very rare chromosomal disorder (two reported cases) where a portion of the long arm (q24-q41) of chromosome one is duplicated. The type and severity of symptoms may vary - one patient died soon after birth whereas the other survived with severe problems.
  • EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
  • Houlston ironton temple syndrome de: A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis.
  • Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by a forearm abnormaity, heart defect and an eye anomaly called blepharophimosis.
  • Hypotelorism -- cleft palate -- hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.
  • Hypothyroidism postaxial polydactyly mental retardation: A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance.
  • Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies.
  • Krieble Bixler syndrome: A rare inherited syndrome characterized by blepharphimosis and various congenital anomalies involving the limbs, heart, ear and face.
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Low nasal bridge: Low nasal bridge refers to an unusually low uppermost boney part of the nose.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Mental retardation -- blepharophimosis -- obesity -- web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
  • Mental retardation -- hip luxation -- G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
  • Mental retardation -- short stature -- microcephaly -- eye anomalies: A very rare syndrome characterized mainly by mental retardation, short stature, small head and eye abnormalities. It has only been reported in one family.
  • Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
  • Mickleson syndrome: A very rare syndrome characterized mainly by mental retardation and facial and skull anomalies.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Nablus mask-like facial syndrome: A rare disorder characterized by an unusual mask-like facial appearance.
  • Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
  • Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
  • Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 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.

 

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