There are many conditions that come under the 'dysmelia' heading or involve dysmelia as one of its features. Listed below are many of them. If you know of one that isn't covered, or have information to add, please let us know.
The links are to reputable sources, mainly Orphanet, where you can find out more about the specific condition.
Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects; often accompanied by skull ossification defects.
Link: Adams-Oliver syndrome
Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root; upturned nose; infra-orbital creases; prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes; and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare; except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as part of a complex malformation syndrome. To date; many different forms of brachydactyly have been identified.
Link: Brachydactyly
Campomelia; Cumming type; is characterized by the association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele; generalized hydrops; polycystic kidneys; pancreas and liver; fibrotic liver or pancreas; polysplenia; heterotaxia; lung hypoplastia; short bowel. All infants reported so far were either stillborn or died shortly after birth. In one of the affected families; three sibs with identical features born to first-cousin parents have been reported; suggestive of autosomal recessive mode of inheritance.
Link: Campomelia; Cumming type
Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia; facial abnormalities and sacrococcygeal teratoma. The etiology is unknown; but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor; from which chondro-osseous morphology emerges; has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children.
Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). So far; only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait.
Link: Haas syndrome
Hanhart syndrome is a rare birth defect in which the main signs are a short; incompletely developed tongue (hypoglossia): absent or partially missing fingers and/or toes (hypodactylia): malformed arms and/or legs (peromelia): and an extremely small jaw (micrognathia)
Link: Hanhart syndrome
Holt-Oram syndrome is an inherited disorder that causes abnormalities of the hands; arms; and heart. In the United States; it occurs in approximately one in every 100;000 children born; and affects both males and females equally.
Link: Holt-Oram syndrome
Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia).
Link: Humeroradial Synostosis
This syndrome is characterised by the association of Microgastria with a limb reduction defect. Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies: limb-reduction defects (unilateral or bilateral absence of the thumbs; absence of the radius and ulna; total amelia); asplenia; intestinal malrotation; hepatic symmetry; cardiopulmonary anomalies; central nervous system and renal anomalies; and laryngo-tracheo-bronchial clefts.
Link: Microgastria
Microlissencephaly-micromelia is characterised by micromelia of the upper limbs; dysmorphic features; seizures; postnatal microcephaly with a simplified gyral pattern and apparent frontal agyria; leading to early death. It has recently been reported in two sisters. Neonatal examination is abnormal with absent archaic reflex. Patients develop intractable seizures. Hypoparathyroidism and hypertrichosis can also be present. Inheritance is consistent with an autosomal recessive pattern. Medical management requires neonatal intensive care.
Radial club hand or radial dysplasia describes a very rare congential failure of formation of preaxial structures in the upper limb. At its extreme; the most obvious abnormality is that of the skeleton with a hypoplastic or absent radius. However; all soft tissues may be affected.
Link: Radial Aplasia
Sirenomelia is a rare lethal malformation characterized by severe anomalies of the caudal part of the fetus. The prevalence has been estimated at about 1 in 100;000 births. Malformations include a single lower limb; with various degrees of involvement ranging from single to separate femurs in the same skin shaft; presence of two feet (sympode mermaid) or one foot (monopode mermaid); to absence of both feet (ectromelic mermaid). Urogenital anomalies are also present and include bilateral renal agenesis; absence of outflow tract and absence of external genitalia. Imperforate anus and sacro-coccygeal agenesis have also been reported. Together these malformations comprise the extreme form of the caudal regression sequence. Sirenomelia is usually a sporadic condition but rare familial recurrences have been described
Link: Sirenomelia
Symbrachydactyly is a congenital (present at birth) hand anomaly; which affects a single upper limb. It is not inherited. It is characterised by short; stiff; webbed or missing fingers. The underlying muscles; tendons; ligaments and bones are all affected.
Link: Symbrachydactyly
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. Prevalence is estimated at 1 in 1;000;000 live births. Tibial hemimelia can be unilateral or bilateral. It may occur as an isolated anomaly; or as a part of a complex malformation syndrome (such as the Gollop-Wolfgang complex and triphalangeal thumb-polysyndactyly syndrome; see these terms). The etiology remains uncertain. Although the majority of cases with tibial hemimelia are sporadic; affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Diagnosis is based on clinical and radiological findings. Prenatal diagnosis using ultrasound is possible. Management requires surgical correction of the tibial hemimelia and any associated malformations; especially those concerning the foot (equinovarus; partial duplication of the foot). Reconstructive surgery and a prosthesis adapted to growth; together with regular post-operative follow-up; are necessary for optimal functional results.
Link: Tibial hemimelia
Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. Incidence is estimated at 1/100;000-150;000 live births; with a male to female ratio of 3:2. Ulnar hemimelia is unilateral in approximately 70% of cases; tends to be right-sided; and is usually incomplete and nonsyndromic. Most patients have some shortening of the forearm. The position of the hand tends to drift to the ulnar-side of the wrist. The extension of the elbow is generally limited to about 90 degrees. In severe cases; the elbow is held at about 160 degrees of flexion. Ulnar hemimelia may present with other skeletal anomalies (absence or hyperplasia of the radial digits; thumb duplication; or syndactyly) or as part of a syndrome (Poland anomaly; Goltz-Gorlin syndrome; Schinzel syndrome; Klippel-Feil syndrome or Cornelia de Lange syndrome: see these terms). Ulnar deficiency is also one of the manifestations of the femur-fibula-ulna syndrome (see this term). The etiology of ulnar hemimelia remains unknown. The deformity is believed to develop between the 4th and 7th week of gestation. Most of the reported cases are sporadic but a few familial cases have been described. Diagnosis is based on clinical examination and X-rays. Further tests may be required in case of additional anomalies. The differential diagnosis should include a short ulna; dyschondrogenesis; Madelung deformity; Nievergelt syndrome and embryofetopathy due to maternal diabetes mellitus (see these terms). Treatment depends on the severity of the condition and the associated skeletal anomalies or syndromes. Passive stretching exercises may allow extension of the wrist and elbow to a normal position. Corrective casting and splinting may also be used. In severe cases; surgical therapy aimed at ulnar lengthening (surgical excision; osteotomy; or plastic surgery) is necessary. Occupational and physical therapy is mandatory. Patients with ulnar hemimelia may have limited motion; function and strength; but in general; the limb and hand are functional. In case of syndromic presentation; prognosis depends on the nature of the associated anomalies.
Link: Ulnar hemimelia
Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening; acral synostoses; and multiple congenital malformations. So far; five patients in four unrelated families have been reported worldwide with MMS. By using whole-genome oligonucleotide array CGH; we have identified an interstitial deletion at 8q13 in all patients.
Aglossia adactylia is characterized by the association of aglossia (absence of tongue); adactylia (absence of fingers or toes) and limb; craniofacial and other; less frequent malformations. It was first described in 1932; but in 1950 Hanhart described three cases of aglossia with associated limb defects and gave his name to the syndrome..
Link: Aglossia adactylia
Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root; upturned nose; infra-orbital creases; prominent cheeks and micrognathia) were also reported.
Link: amelia
Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb; its extremities may become entangled in the amniotic band resulting in constriction or even amputation.
Link: amniotic band syndrome
Apert syndrome is a malformation disorder characterised by the association of faciocraniosynostosis and osseous and membranous syndactyly of the four extremities. The incidence has been estimated at 1 in 50 000 births.
Link: Apert Syndrome
(Costovertebral segmentation defect - mesomelia)
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS; see this term) characterized by short-limb dwarfism; costovertebral segmentation defects and abnormalities of the head; face and external genitalia. Fewer than 100 cases of this type have been reported in the literature to date. The disorder is usually recognizable at birth or in early childhood. The clinical signs are generally far more severe in recessive cases of RS than in the dominant form; particularly skeletal abnormalities. All patients with the recessive form of RS suffer from vertebral segmentation abnormalities; resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. The syndrome is caused by mutations in the.ROR2.gene (9q22). Transmission is autosomal recessive.
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families.
Link: Cenani-Lenz syndrome
Split hand-split foot (split hand-foot malformation; SHFM) is a rare malformation involving the central rays of the hands and feet; affecting randomly one to all four limbs. Syndactyly with oligodactyly; median clefts of the hands and feet; and opposable fingers are the most common features; leading to a so-called 'lobster claw' appearance. The major feature observed is monodactyly; where the radial rays are absent with; as a rule; only the fifth digit remaining.
Link: ectrodactyly
Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. Prevalence is estimated at 1 in 50;000. A slight male preponderance has been reported in some studies; whereas other reports describe an equal sex distribution. Unilateral involvement occurs in two-thirds of cases; with the right fibula being affected more often than the left. Agenesis of both fibulae is rare. Fibular hemimelia may vary from partial absence of the fibula with relatively normal-appearing limbs (10% of cases); to absence of the fibula with marked shortening of the femur; curved tibia; bowing of the leg; knee joint and ankle instability; and significant soft tissue deficiency. The major functional deficiency results from leg length discrepancy in unilateral cases or asymmetrical dwarfism in bilateral cases. The foot is generally in an equinovalgus position. As there is limited growing potential within the affected bone; the extent of the deformity tends to increase with growth. Occasionally; fibular hemimelia is associated with congenital shortening of the femur (proximal femoral focal deficiency: see this term). Other skeletal anomalies (craniosynostosis; syndactyly; brachydactyly; oligodactyly and ectrodactyly) may also be present.
Link: Fibular hemimelia
Link: oligodactyly
Schinzel phocomelia syndrome; also called limb/pelvis hypoplasia/aplasia syndrome; is characterized by skeletal malformations affecting the ulnae; pelvic bones; fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome; they are thought to be the same disorder. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly; oligodactyly or ectrodactyly); absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia); skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy; unusual facies (dysplastic and large ears; and a high and narrow palate); and genital malformations (Mullerian aplasia; agenesis of the uterus and vagina; micropenis with cryptorchidism). Growth and mental development are normal. As most of the affected patients were born to consanguineous parents; autosomal recessive inheritance is presumed. A null mutation in the 'WNT7A' gene (3p25) is responsible for this syndrome. It is a severe allelic form of Fuhrmann syndrome. The limb deficiencies and/or the absent pelvis may be detected by ultrasound. Some of the affected infants died shortly after birth.
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion); and a variable degree of ipsilateral hand anomalies; including symbrachydactyly. Various anomalies of the breasts and nipples; and variable involvement of the hand and forearm (some patients having normal hands) have also been reported..
Link: Poland syndrome
Link: polydactyly
Link: polysyndactyly
Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. It occurs in 1/30;000-100;000 live births; and is slightly more common in males than in females (sex ratio of 3:2). Radial hemimelia is bilateral in 50% of cases and the right side is more commonly involved than the left (with a ratio of 2:1). The degree of malformation varies. In the most severe cases; the radius is completely absent; and the entire arm is shorter with marked curving of the forearm and stiffness of the elbow and fingers.
Link: Radial hemimelia
Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation; severe symmetric limb reduction defects; craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. The prevalence and incidence are not known. Less than 150 cases have been described in the literature. Upper limbs are more frequently and severely affected than lower limbs. The defect is mostly mesomelic with the radius being the most affected in the upper limbs; and the fibula in the lower limbs. The most severe defects result in phocomelia. Aplastic or hypoplastic thumbs; oligodactyly; clinodactyly or syndactyly can also occur. Craniofacial anomalies include microcephaly (more severe in males than in females); hypoplastic nasal alae; malar hypoplasia; hypertelorism; micrognathia; capillary hemangioma; exophthalmos; downslanting palpebral fissures; dysplastic or small ears; cloudy cornea or cataracts; and cleft lip and palate. There is a correlation between the degree of limb and facial malformations.
Syndactyly is condition wherein there is a congenital malformation of the limbs. It occurs in 1 in 2000 to 3000 live births. The term is derived from the Greek words .syn.; which means together; and .dactyly.; which stands for fingers.
Link: syndactyly
(Zimmer phocomelia)
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body; including the face and head; heart; nervous system; skeleton; and genitalia. The lungs are underdeveloped in many cases; which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems; most are stillborn or die shortly after birth
(Tibial hemimelia with split hand/foot malformation)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The incidence is estimated to be approximately 1 in 1;000;000 live births. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation; hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora; hypo- or aplasia of ulnae; and minor anomalies such as aplasia of patellae; postaxial and intermediate polydactyly in association with split-hand deformity; and cup-shaped ears. Overlap with the Gollop-Wolfgang syndrome (see this term) has been described. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families. Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified; leading to the hypothesis that this syndrome fits the model of digenic inheritance.
(Tibial hemimelia-ectrodactyly syndrome)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The incidence is estimated to be approximately 1 in 1;000;000 live births. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation; hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora; hypo- or aplasia of ulnae; and minor anomalies such as aplasia of patellae; postaxial and intermediate polydactyly in association with split-hand deformity; and cup-shaped ears. Overlap with the Gollop-Wolfgang syndrome (see this term) has been described. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families. Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified; leading to the hypothesis that this syndrome fits the model of digenic inheritance.
Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay; dolichocephaly; a characteristic facies; limb anomalies and visceral malformations. Incidence is estimated at between 1/6000 and 1/8000 births. In utero death occurs in more than 95% of fetuses with this chromosome anomaly
Link: trisomy 18 syndrome
(Renal dysplasia - mesomelia - radiohumeral fusion)
Ulbright-Hodes syndrome is characterised by renal dysplasia; growth retardation; phocomelia or mesomelia; radiohumeral fusion; rib abnormalities; anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case); all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Link: Ulbright-Hodes syndrome
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a reduction in the number of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe or returns to normal over time.