A developmental defect in which a kidney is located in an abnormal anatomic position.

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale

The presence of a bicornuate uterus.

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Undergrowth of the outer labia.

Lack of external genitalia in a male or female individual.

Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".

Limb shortening because of underdevelopment of one or more bones of the extremities.

Hypoplasia (congenital reduction in size) of the thumb.

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Missing radius bone associated with congenital failure of development.

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Bending of the diaphysis (shaft) of the ulna.

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.

A developmental defect resulting in the presence of fewer than the normal number of digits.

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).

Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Abnormal narrowing of the anal opening.

The position of the umbilicus (belly button) is abnormally low (inferior).

Underdevelopment of the external ear.

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).

Protrusion of the contents of the abdominal cavity through the inguinal canal.

Developmental hypoplasia of the mandible.

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).

Underdeveloped scapula.

Underdevelopment of the ilium ala.

Multiple congenital contractures in different body areas.

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.

A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

An outward turning (eversion) or rotation of the eyelid margin.

A type of lagophthalmos that occurs following trauma or surgery.

Absent eyelids.

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

A lack of facial expression often with staring eyes and a slightly open mouth.

Absence of the eyebrow.

Diminished length of the neck.

A congenital malformation with a cleft (gap or opening) in the face.

Thinned, deficient, or excessively arched ala nasi.

A short discontinuity of the margin of the lower eyelid.

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

Decreased number of hairs per unit area of skin of the scalp.

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.

Skin characterized by the lack of natural or normal moisture.

Loss of all scalp hair.

A nail that is diminished in length and width, i.e., underdeveloped nail.

Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).

Lack of eyelashes.

Presence of a cutaneous membrane (flap) in the armpit.

A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).

An abnormal reduction in quantity or strength of fetal movements.

A larger than usual distance between the left and right nipple.

Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Reduced transparency of the stroma of cornea.