*4.5.1. Camptodactyly*

Camptodactyly is the irreversible flexion of one or both interphalangeal joints at the level of one or more fingers, being most frequently a congenital condition.

Considering the presence of this sign in multiple chromosomal anomalies, some authors con-

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Usually, the treatment is not necessary. If necessary - because of emotional stress due to esthetic reasons or the impairment of the fine hand movements - the treatment is surgical [69]. For surgery, preoperative radiographs of the pollex are performed, establishing the size of the graft and the degree of angulation necessary to restore the normal function of the distal phalange.

It is one of the most common congenital abnormalities of upper limbs, seen in all ethnicities, and it refers to the presence of additional fingers, being usually bilateral [70]. Most often, polydactyly affects the upper and lower limbs synchronously. Supernumerary fingers do not

The classification of this condition is based on the location of the additional fingers, the poly-

Polydactyly may appear isolated, de novo, sometimes autosomal dominant inherited or may be associated with syndromes [73, 74] such as Bardet-Biedl Syndrome, Carpenter Syndrome, Elis-Van Creveld Syndrome, Fanconi Syndrome, Greig Syndrome, Holt-Oram Syndrome, Meckel-Gruber

sider it a "soft sign", if detected in an antenatal ultrasound scan.

If the clinodactyly is isolated, it has an excellent prognosis.

usually have adequate muscle connections [71, 72].

• Mesoaxial/central (duplication of fingers II, III, IV),

*4.5.3. Polydactyly*

dactyly being:

• Mixed.

• Postaxial (duplicated finger V),

**Figure 11.** Clinodactily of the fifth finger.

• Preaxial (duplicated thumb),

It can be diagnosed antenatally [63–65] "in utero" or postnatally, being a clinically obvious deformity, which subsequently requires imaging investigations. An abnormal insertion of lumbrical and flexor digitorum tendons of the hand is often noted.

Camptodactyly may occur sporadically, de novo or by autosomal dominant inheritance.

It may be an isolated clinical manifestation or clinical expression in syndromes such as Trisomy 18 and 13, Freeman Sheldon Syndrome, Pena Shokeir Syndrome, CACP Syndrome (Camptodactyly, Arthropathy, Coxa vara, Pericarditis), arthrogryposis [63, 65–67].

#### *4.5.2. Clinodactyly*

Clinodactyly is a congenital malformation consisting of the lateral deflection of the fingers by affecting the first interphalangeal joint, which interests any finger, especially the pollex and the auricular fingers (the fifth finger), (**Figure 11**).

Clinodactyly is a descriptive term, which refers to a radial angulation at a common interphalangeal joint in radio-ulnar or palmar planes, and can often be a normal anatomical variant.

The incidence varies, ranging between 1 and 18%, as it is most frequently under-reported.

Clinodactyly may be a very common isolated clinical manifestation in the context of a family history [68] - with autosomal recessive inheritance, but it may also occur in several syndromes, in association with other locomotor abnormalities or in other organs and systems.

Clinodactyly is seen in over 60% of children with Down syndrome [63], Klinefelter syndrome, trisomy 18, Turner syndrome, Cornelia de Lange Syndrome, Feingold Syndrome, Roberts Syndrome, Russell-Silver Syndrome or Fanconi Syndrome. It may also be a clinical manifestation associated with other abnormalities such as macrodystrophia lipomatosa and brachydactyly type A3.

**Figure 11.** Clinodactily of the fifth finger.

Considering the presence of this sign in multiple chromosomal anomalies, some authors consider it a "soft sign", if detected in an antenatal ultrasound scan.

If the clinodactyly is isolated, it has an excellent prognosis.

Usually, the treatment is not necessary. If necessary - because of emotional stress due to esthetic reasons or the impairment of the fine hand movements - the treatment is surgical [69]. For surgery, preoperative radiographs of the pollex are performed, establishing the size of the graft and the degree of angulation necessary to restore the normal function of the distal phalange.

### *4.5.3. Polydactyly*

Histopathologically, they are cellular (melanocyte) benign clusters that change very little in life, have a slow growth, and never invade the surrounding tissues. The number of nevi is influenced both genetically - the family history is very important - and from the sun exposure

Congenital pigmentary nevi over 20 cm in diameter have an increased risk of malignancy.

The management of pigmentary nevi depends on the type of nevus and the degree of uncertainty of the diagnosis. Benign ones require nothing else than monitoring after the neonatal period [60, 61], while those with special characteristics - asymmetry, uneven, irregular margins, color variations, diameter > 6 mm - very rare cases, require biopsy with histopathology,

Camptodactyly is the irreversible flexion of one or both interphalangeal joints at the level of

It can be diagnosed antenatally [63–65] "in utero" or postnatally, being a clinically obvious deformity, which subsequently requires imaging investigations. An abnormal insertion of

It may be an isolated clinical manifestation or clinical expression in syndromes such as Trisomy 18 and 13, Freeman Sheldon Syndrome, Pena Shokeir Syndrome, CACP Syndrome (Camptodactyly,

Clinodactyly is a congenital malformation consisting of the lateral deflection of the fingers by affecting the first interphalangeal joint, which interests any finger, especially the pollex and

Clinodactyly is a descriptive term, which refers to a radial angulation at a common interphalangeal joint in radio-ulnar or palmar planes, and can often be a normal anatomical variant. The incidence varies, ranging between 1 and 18%, as it is most frequently under-reported.

Clinodactyly may be a very common isolated clinical manifestation in the context of a family history [68] - with autosomal recessive inheritance, but it may also occur in several syndromes,

Clinodactyly is seen in over 60% of children with Down syndrome [63], Klinefelter syndrome, trisomy 18, Turner syndrome, Cornelia de Lange Syndrome, Feingold Syndrome, Roberts Syndrome, Russell-Silver Syndrome or Fanconi Syndrome. It may also be a clinical manifestation associated with other abnormalities such as macrodystrophia lipomatosa and brachydactyly type A3.

in association with other locomotor abnormalities or in other organs and systems.

Camptodactyly may occur sporadically, de novo or by autosomal dominant inheritance.

Pigmentary nevi are commonly diagnosed clinically or using the dermatoscope.

immunohistochemistry and electron microscopy [57, 62].

one or more fingers, being most frequently a congenital condition.

lumbrical and flexor digitorum tendons of the hand is often noted.

Arthropathy, Coxa vara, Pericarditis), arthrogryposis [63, 65–67].

the auricular fingers (the fifth finger), (**Figure 11**).

of the infant [59].

522 Congenital Anomalies - From the Embryo to the Neonate

**4.5. Minor hand anomalies**

*4.5.1. Camptodactyly*

*4.5.2. Clinodactyly*

It is one of the most common congenital abnormalities of upper limbs, seen in all ethnicities, and it refers to the presence of additional fingers, being usually bilateral [70]. Most often, polydactyly affects the upper and lower limbs synchronously. Supernumerary fingers do not usually have adequate muscle connections [71, 72].

The classification of this condition is based on the location of the additional fingers, the polydactyly being:


Polydactyly may appear isolated, de novo, sometimes autosomal dominant inherited or may be associated with syndromes [73, 74] such as Bardet-Biedl Syndrome, Carpenter Syndrome, Elis-Van Creveld Syndrome, Fanconi Syndrome, Greig Syndrome, Holt-Oram Syndrome, Meckel-Gruber Syndrome, Pallister-Hall Syndrome, Smith-Lemil-Opitz Syndrome, Trisomy 13, Trisomy 18, Short Rib Polydactyly Syndrome Type I (Saldino-Noonan Type) (Majewski type), Trisomy 21, Townes-Brocks Syndrome.

*4.6.2. Dysplastic nails*

palpebral fissures.

(**Figures 12** and **13**).

**Figure 12.** Phalanx anomalies.

tyly, macrostomia, macroglossia.

formation, agenesis of corpus callosum.

*4.6.3. Phalanx anomalies: digital deformities*

tions such as:

Insufficient development of nails [82] may occur in isolation or in many genetic malforma-

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• Simpson-Golabi-Behmel Syndrome (Bulldog Syndrome). The most common etiology of this syndrome is the mutations in the GPC3 gene to chromosome X [83]. Nail hypoplasia is accompanied by other clinical manifestations such as macrosomia, hypertelorism, polydac-

• Fetal Alcohol Syndrome [84]. Prenatal exposure to alcohol causes numerous fetal malformations, including nail dysplasia accompanied by: microcephaly, facial hirsutism, short

• Fryns Syndrome. This syndrome is a genetic disorder inherited in an autosomal recessive manner, in which dysplastic nails occur along with other minor and major malformations such as diaphragmatic hernia, hirsutism, distal phalangeal hypoplasia, Dandy-Walker mal-

The small bones and soft tissues of the feet can be affected by systemic disorders, and frequently, the findings are quite unique and virtually help diagnose some genetic or metabolic disorders [85]. Sometimes the changes in the structural bones of the feet, metacarpals and metatarsals, or the phalangeal units are so astonishing that they ensure the diagnosis of peculiar and rare syndromes. There are many disorders – some genetic, some neoplastic, some inflammatory – which sometimes produce extraordinary changes in the patient's feet. In some cases, phalanx abnormalities occur as a result of the sucking of the finger by the fetus, causing elongation and hypertrophy

Usually, polydactyly is diagnosed antenatally, but if it is postnatally discovered, it requires paraclinical investigations in order to be included in one of the genetic syndromes, except for cases of family history. The investigations are performed using imaging techniques (MRI, CT scan, ultrasound examination), followed by genetic consultation in case of association with other malformations. The most commonly associated malformations are syndactyly, hypoplasia or aplasia of long bones, hydrocephalus, microcephaly, spina bifida, ventricular septal defect, atrial septal defect, esophageal atresia, duodenal atresia, anal imperfection, abdominal wall defects, renal agenesis, polycystic kidney disease, hydronephrosis, diaphragmatic hernia, anophthalmia, cheilopalatoschisis.

In the case of isolated polydactyly, no treatment is required. If this anomaly affects the mobility and gross/fine movements of the fingers/hands, the treatment is always surgical.
