Dysmelia (from the

Greek Greek may refer to: Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group *Greek language, a branch of the Indo-European language family **Proto-Greek language, the assumed last common ancestor of all kno ...

(), "bad" + (), "limb" + English suffix -ia) is a

congenital disorder A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

of a limb resulting from a disturbance in

embryonic development In developmental biology, animal embryonic development, also known as animal embryogenesis, is the developmental stage of an animal embryo. Embryonic development starts with the fertilization of an egg cell (ovum) by a sperm, sperm cell (spermat ...

Types

Dysmelia can refer to * missing (

aplasia Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produ ...

) limbs: amelia (including tetraamelia),

oligodactyly Oligodactyly () is the presence of fewer than five digits (fingers or toes) on a hand or foot.congenital amputation Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs. It is known to be caused by blood clots forming in the fetus while ''in utero'' (vascular insult) and from amniotic band syndrome: fibrous bands of th ...

e.g. tibial or

radial aplasia Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone (thumb side) which connects the humerus of the upper arm to the wrist via articulation with the carpal bones. A child ...

malformation A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...

of limbs: shortening (micromelia,

rhizomelia Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder. According to Stedman's medical dictionary "rhizomelic" means "relating to ...

mesomelia Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs. This is in contrast to rhizo ...

ectrodactyly Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central Digit (anatomy), digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ec ...

phocomelia Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; ho ...

meromelia Meromelia is a birth defect characterized by the lacking of a part, but not all, of one or more limbs with the presence of a hand or foot. It results in a shrunken and deformed extremity. Cause Such defects are mainly the results of genetic disord ...

syndactyly Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adja ...

brachydactyly Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant t ...

club foot Clubfoot is a congenital or acquired defect where one or both feet are supinated, rotated inward and plantar flexion, downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. ...

* extra limbs:

polymelia Polymelia is a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia. In humans and most land-dwelling vertebrates, this means having five or more limbs. The extra limb is most commonly shr ...

polydactyly Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mut ...

polysyndactyly Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit. __TOC__ Signs and symptoms Presentations ...

* others:

hemimelia Hemimelia is a birth defect consisting in unilateral or bilateral underdevelopment of the distal part of the lower or upper limb. The affected bone may be shortened or not develop at all. Types of hemimelia Transverse hemimelia is a congenital ...

symbrachydactyly Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot. In many cases, bones will be missing from the fingers and some fingers or to ...

Occurrence rate

Birth defects involving limbs occur in 0.69 per 1000.

Causes

Dysmelia can be caused by *

Inheritance Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Offi ...

of abnormal

genes In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

, e.g.

, symptoms of deformed limbs then often occur in combination with other symptoms (

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...

s) * external causes during pregnancy (thus not inherited), e.g. via

amniotic band syndrome Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect, names. It is a malformation due to intrauterine bands or rings that produce deep grooves ...

teratogenic Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by ...

drugs (e.g.

thalidomide Thalidomide, sold under the brand names Contergan and Thalomid among others, is an oral administered medication used to treat a number of cancers (e.g., multiple myeloma), graft-versus-host disease, and many skin disorders (e.g., complication ...

, which causes

) or environmental chemicals * ionizing radiation (

nuclear weapon A nuclear weapon is an explosive device that derives its destructive force from nuclear reactions, either fission (fission or atomic bomb) or a combination of fission and fusion reactions (thermonuclear weapon), producing a nuclear exp ...

radioiodine There are 40 known isotopes of iodine (53I) from 108I to 147I; all undergo radioactive decay except 127I, which is stable. Iodine is thus a monoisotopic element. Its longest-lived radioactive isotope, 129I, has a half-life of 16.14 million ye ...

radiation therapy Radiation therapy or radiotherapy (RT, RTx, or XRT) is a therapy, treatment using ionizing radiation, generally provided as part of treatment of cancer, cancer therapy to either kill or control the growth of malignancy, malignant cell (biology), ...

) * infections * metabolic imbalance

Syndromes with dysmelia

* 2p15-16.1 microdeletion syndrome * Achard syndrome *

Ackerman syndrome Ackerman syndrome or interstitial granulomatous dermatitis is a familial syndrome of fused molar roots with a single canal ( taurodontism), hypotrichosis, full upper lip without a cupid's bow, thickened and wide philtrum, and occasional juvenile g ...

Acrocallosal syndrome Acrocallosal syndrome (also known as ACLS) is an extremely rare Dominance (genetics), autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other ...

* Acropectoral syndrome *

Adams–Oliver syndrome Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Signs and symptoms Two key features of AOS are ...

Aglossia adactylia Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. There exist five types of Hanhart syndrome, with the severity and nature of the ...

Amniotic band syndrome Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect, names. It is a malformation due to intrauterine bands or rings that produce deep grooves ...

Apert syndrome Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first Pharyngeal arch, branchial (or pharyn ...

* Autosomal recessive Robinow syndrome * Basel–Vanagaite–Sirota syndrome (

Microlissencephaly Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small head) with lissencephaly (smooth brain surface due to absent Sulcus (neuroanatomy), sulci and gyri). Microlissencephaly is a heterogeneous disor ...

- Micromelia syndrome) *

Campomelic dysplasia Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can be lethal in the neonatal period due to respiratory insufficiency, but the severity of the diseas ...

Cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It is characterized by the following: *Distinctive facial appearance *Unusually sparse, brittle, curly scal ...

* Catel–Manzke syndrome * Cenani–Lenz syndrome * Corneodermatoosseous syndrome * Diploid triploid mosaic *

Ectrodactyly–ectodermal dysplasia–cleft syndrome Ectrodactyly–ectodermal dysplasia– cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndromeFreedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6t ...

Edwards syndrome Edwards may refer to: People * Edwards (surname), an English surname * Edwards family, a prominent family from Chile * Edwards Barham (1937–2014), American politician * Edwards Davis (1873–1936), American actor, producer, and playwright * Edwa ...

Ellis–Van Creveld syndrome Ellis–Van Creveld syndrome (also called ''mesoectodermal dysplasia'' but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type. Signs and symptoms It involves numerous anomalies including: * Post-axial ...

* Fibular dimelia diplopodia syndrome (Leg duplication mirror foot syndrome) *

Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more ...

* Haas syndrome *

Hanhart syndrome Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. There exist five types of Hanhart syndrome, with the severity and nature of the ...

Holt–Oram syndrome Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (th ...

* Humeroradial synostosis * Johnson–Munson syndrome *

Joubert syndrome Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the Human brain, brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic ...

McKusick–Kaufman syndrome McKusick–Kaufman syndrome (MKS) is a rare genetic condition caused by mutations in the '' MKKS'' gene, which affect how cells develop and function. It is named after Dr. Robert L. Kaufman and Victor McKusick, who studied the condition and helped ...

* Mermaid syndrome * Mesomelia-Synostoses syndrome (8q13 microdeletion syndrome) * Microgastria * Myhre syndrome * Nager acrofacial dysostosis *

Neu–Laxova syndrome Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and ...

Patau syndrome Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and co ...

Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the human skull, skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands an ...

Poland syndrome Poland syndrome is a birth defect characterized by an underdeveloped Pectoralis major, chest muscle and symbrachydactyly, short webbed fingers on one side of the body. There may also be short ribs, less fat, and breast and nipple abnormalities o ...

Radial aplasia Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone (thumb side) which connects the humerus of the upper arm to the wrist via articulation with the carpal bones. A child ...

Roberts SC-Phocomelia syndrome Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of th ...

(Phocomelia syndrome) * Rubinstein–Taybi syndrome *

Silver–Russell syndrome Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of ...

* Split-hand split-foot malformation (SHFM) *

TAR syndrome TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. It is associated with cardiac defects, dysmorphic f ...

(thrombocytopenia with absent radius) *

Tetra-amelia syndrome Tetra-amelia syndrome (''tetra-'' + '' amelia''), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected b ...

* Ulbright–Hodes syndrome *

VACTERL association The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome, because th ...

* Wallis–Zieff–Goldblatt syndrome

References

External links

DysNet: An organisation for people affected by Dysmelia (congenital limb difference)

Reach: Association for Children with Upper Limb Deficiency)
{{Congenital malformations and deformations of musculoskeletal system Congenital disorders of musculoskeletal system Supernumerary body parts