The presence of abnormally small extremities.

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.

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

A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.

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

Abnormally short finger associated with developmental hypoplasia.

Aplasia (absence) of the distal phalanges.

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

Underdevelopment of the heel bone.

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

Abnormally increased size of the liver.

Simultaneous enlargement of the liver and spleen.

Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.

The presence of abnormal calcium deposition in the liver.

A thrusting or bulging out of the abdomen.

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.

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).

Developmental hypoplasia of the mandible.

Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.

An abnormality in which the mandible is mislocalised posteriorly.

A partial or complete breakage of the rib.

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 rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.

Calcification (abnormal deposits of calcium) in the tracheal tissues.

More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Increased length of the clavicles.

Reduced rib length.

A reduction in the magnitude or amount of ossification of the skull.

Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.

Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.

Presence of only 11 pairs of ribs.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

Phocomelia involving all four extremities.

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

Increased bone density of the skull base without significant changes in bony contour.

The presence of bone fractures in the prenatal period that are diagnosed at birth or before.

One or more abnormally short long bone.

Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.

Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

Deposition of calcium salts in a tissue or location in which calcification does not normally occur.

Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.

The presence of punctiform calcification of the bone of the vertebral bodies.

Three ossification sites are present in typical vertebral bodies (C3-L5)

Any abnormality of the scapula, also known as the shoulder blade.

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.

A developmental defect in the formation of pulmonary lobes.

Ossification affecting the set of cartilages of larynx.

Calcification (abnormal deposits of calcium) in the laryngeal tissues.

A cystic lymphatic lesion of the neck.

An abnormally increased height of the forehead.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

The presence of excess amniotic fluid in the uterus during pregnancy.

The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.

Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).

Increased size of the placenta.

Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.

Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).

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).