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Diseases » Frias syndrome » Glossary
 

Glossary for Frias syndrome

  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Bone conditions: Conditions that affect the bones
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Conradi-Hünermann Syndrome: A condition which affects the development of bone and cartilage
  • Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities.
  • De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement.
  • Droopy eye-lid: Droopiness of the eyelids (ptosis)
  • Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
  • Fetal alcohol syndrome: A pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.
  • Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
  • Finger symptoms: Symptoms affecting any fingers
  • Foot conditions: Any condition that may affect the foot
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Hand conditions: Any condition that affects the hand
  • Head Conditions: Conditions that affect the head
  • Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
  • Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
  • Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
  • LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
  • Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
  • Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Menkes Disease: Genetic disease of copper deficiency.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
  • Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
  • Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
  • Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
  • Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
  • Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
  • Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
  • Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
  • Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
  • Roberts Pseudothalidomide Syndrome:
  • Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
  • Rubella virus antenatal infection: A rare disorder caused by exposure of the fetus to maternal rubella and resulting in a range of abnormalities and fetal death is also possible.
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Short toes: Short toes are toes that are unusually short.
  • Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
  • Trichorhinophalangeal Syndrome Type I:
  • Trichorhinophalangeal Syndrome Type II:
  • Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Wide-set eyes: A condition where the eyes are wider apart than normal.
  • X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia

 

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