Glossary for Brachydactyly
Medical terms related to Brachydactyly or mentioned in this section include:
- $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- $3q deletion$: 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.
- Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
- Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
- Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
- Arm symptoms: Symptoms affecting the arm
- Chondrodysplasia: An inherited disease where bones grow abnormally long, especially the arm and leg bones.
- Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
- Chromosome 13q deletion syndrome: A rare chromosomal disorder where 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.
- Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
- Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
- Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
- Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
- Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
- Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
- Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
- Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
- Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
- Dup (5)(q22-q23): A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities.
- Dup (5)(q31-qter): A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities.
- Dup (5)(q32-qter): A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities.
- Dup (5)(q33-qter): A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities.
- Face symptoms: Symptoms affecting the face
- Finger symptoms: Symptoms affecting any fingers
- Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
- Foot symptoms: Symptoms affecting one or both feet
- Growth symptoms: Symptoms related to poor or excessive growth.
- Hand symptoms: Symptoms affecting the hand
- Hand-foot-uterus syndrome: A rare genetic condition characterized by hand, foot and uterus abnormalities.
- Head symptoms: Symptoms affecting the head or brain
- Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
- Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
- Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
- Keutel syndrome: A rare genetic syndrome characterized by narrowing of blood flow through the pulmonary artery, calcification of cartilage (such as in nose, ear, ribs) and short end bones on fingers and toes
- Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
- Leg symptoms: Symptoms affecting the leg
- Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
- Limb symptoms: Symptoms affecting the limbs
- Meleda Disease: A very rare inherited skin disorder primarily involving dry thick skin patches that develop on the palms of hands and soles of feet. The type and severity of symptoms is variable.
- Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
- Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
- Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
- Poland Syndrome: A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle.
- Poor growth: Poor body growth or delayed physical development.
- Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
- Pseudohypoparathyroidism: An inherited disorder where the body is unable to respond to the parathyroid hormone even though there are normal levels of it. Impaired bone growth is the main feature of this disorder.
- Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
- Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
- Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
- Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
- Short toes:
- Smith-Magenis Syndrome:
- Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
- Tarsal carpal coalition syndrome: A very rare syndrome characterized mainly by fused ankle and wrist bones.
- Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
- Toe symptoms: Symptoms affecting the toes
- Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
- Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
- Ventruto Digirolamo Festa syndrome: A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
- Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
- Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short statures, brachydactyly, lowe set ears, prominent nose and mental retardation
- Vitamin D resistant rickets: A form of rickets that is caused by Vitamin D resistance
- Weill-Marchesani Syndrome:
- Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
» Next page: Disease Center Information
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