Clinodactyly

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Clinodactyly
SampleClinodactyly.jpg
The picture above illustrates a severe case of this condition.
Pronunciation
Specialty Medical genetics

Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").[ citation needed ]

Contents

It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. [1] The term is from the Ancient Greek κλίνειν klínein meaning "to bend" and δάκτυλος dáktulos meaning "digit".

Genetics

Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance.[ citation needed ]

Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. [2] Many syndromes are associated with clinodactyly, including those listed below.[ citation needed ] But the phenotype, by itself, is not a sensitive or specific diagnostic test for these syndromes (it is present in up to 18% of the normal population [3] ).

When identified prenatally, in conjunction with other features of Down syndrome, for example during obstetric ultrasonography, it may be an indication for intrauterine sampling for fetal chromosome analysis. [3]

Pathophysiology

Due to a developmental arrest, there is an abnormal alignment of the joint surfaces at either interphalangeal joint causing angulation in the plane of the palm. The finger may be slightly bent or have a very prominent bend. [4]

Diagnosis

There is no consensus on what degree of angulation justifies a diagnosis; an incline between 15° and 30° is typical. [4] A similar-sounding term, camptodactyly, is a fixed flexion deformity of a digit.[ citation needed ]

Management

Treatment is only necessary if the degree of curvature is sufficient to cause disability or if it causes emotional distress. Splinting does not routinely correct the deformity. Surgical treatments are closing wedge osteotomy, opening wedge osteotomy, and reversed wedge osteotomy. [1] Radiographs of the fingers are useful in planning the surgical procedure. Severe clinodactyly may require soft tissue alterations to the digit such as release of skin, extensor tendon relocation, and collateral ligament advancement. [1]

Epidemiology

Minor degrees of curvature are common. Reports of incidence vary between 1% and 19.5%. [1]

See also

Related Research Articles

Polydactyly Physical anomaly involving extra fingers or toes

Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.

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 complex organ defects.

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.

Kabuki syndrome Medical condition

Kabuki syndrome is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.

Omphalocele Rare abdominal wall defect in which internal organs remain outside of the abdomen in a sac

Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.

Arthrogryposis Medical condition

Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints".

Fetal alcohol spectrum disorder Group of conditions resulting from maternal alcohol consumption during pregnancy

Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. Symptoms can include an abnormal appearance, short height, low body weight, small head size, poor coordination, behavioural problems, learning difficulties, and problems with hearing and sight. Those affected are more likely to have trouble with school, the legal system, alcohol, other drugs, and other areas of high risk. The several forms of the condition are: Fetal Alcohol Syndrome (FAS), Partial Fetal Alcohol Syndrome (pFAS), Alcohol-Related Birth Defects (ARBD),Static Encephalopathy, Alcohol-Related Neurodevelopmental Disorder (ARND) and Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE). Some authorities accept only FAS as a diagnosis, seeing the evidence as inconclusive with respect to other types.

The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the genetic material they carry, can cause various genetic disorders and neoplasms. The sSMC in PKS consists of multiple copies of the short arm of chromosome 12. Consequently, the multiple copies of the genetic material in the sSMC plus the two copies of this genetic material in the two normal chromosome 12's are overexpressed and thereby cause the syndrome. Due to a form of genetic mosaicism, however, individuals with PKS differ in the tissue distributions of their sSMC and therefore show different syndrome-related birth defects and disease severities. For example, individuals with the sSMC in their heart tissue are likely to have cardiac structural abnormalities while those without this sSMC localization have a structurally normal heart.

Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.

3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.

Camptodactyly Medical condition

Camptodactyly is a medical condition that causes one or more fingers or toes to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.

Antley–Bixler syndrome Medical condition

Antley–Bixler syndrome is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.

3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty.

Fryns syndrome Medical condition

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

Hand-foot-genital syndrome Medical condition

Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.

Goldberg–Shprintzen syndrome Medical condition

Goldberg–Shprintzen is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth.

Ectrodactyly Medical condition

Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.

Constriction ring syndrome Medical condition

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 give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction is developmentally normal. CRS can be associated with other malformations with club foot being most common. The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome.

Vaginal anomalies

Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina. When present, they are often found with uterine, skeletal and urinary abnormalities. This is because these structures, like the vagina, are most susceptible to disruption during crucial times of organ-genesis. Many of these defects are classified under the broader term Müllerian duct anomalies. Müllerian duct anomalies are caused by a disturbance during the embryonic time of genitourinary development. The other isolated incidents of vaginal anomalies can occur with no apparent cause. Oftentimes vaginal anomalies are part of a cluster of defects or syndromes. In addition, inheritance can play a part as can prenatal exposure to some teratogens. Many vaginal anomalies are not detected at birth because the external genitalia appear to be normal. Other organs of the reproductive system may not be affected by an abnormality of the vagina. The uterus, fallopian tubes and ovaries can be functional despite the presence of a defect of the vagina and external genitalia. A vaginal anomaly may not affect fertility. Though it depends on the extent of the vaginal defect, it is possible for conception to occur. In instances where a functional ovary exists, IVF may be successful. Functioning ovaries in a woman with a vaginal defect allows the implantation of a fertilized ovum into the uterus of an unaffected gestational carrier, usually another human. A successful conception and can occur. Vaginal length varies from 6.5 to 12.5 cm. Since this is slightly shorter than older descriptions, it may impact the diagnosis of women with vaginal agenesis or hypoplasia who may unnecessarily be encouraged to undergo treatment to increase the size of the vagina. Vaginal anomalies may cause difficulties in urination, conception, pregnancy, impair sex. Psychosocial effects can also exist.

References

  1. 1 2 3 4 Flatt, Adrian E (October 2005). "The troubles with pinkies". Baylor University Medical Center Proceedings. 18 (4): 341–344. doi:10.1080/08998280.2005.11928094. PMC   1255945 . PMID   16252026.
  2. Leung, Alexander K C; Kao, C Pion (December 2003). "Familial clinodactyly of the fifth finger". Journal of the National Medical Association. 95 (12): 1198–200. PMC   2594860 . PMID   14717476.
  3. 1 2 Ermito, S.; Dinatale, A.; Carrara, S.; Cavaliere, A.; Imbruglia, L.; Recupero, S. (2009). "Prenatal diagnosis of limb abnormalities: Role of fetal ultrasonography". Journal of Prenatal Medicine. 3 (2): 18–22. PMC   3279100 . PMID   22439035.
  4. 1 2 Hersh, A. H.; DeMarinis, F.; Stecher, Robert M. (September 1953). "On the inheritance and development of clinodactyly". The American Journal of Human Genetics. 5 (3): 257–268. PMC   1716475 . PMID   13080251.