Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.

The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.

A type of Developmental delay characterized by a delay in acquiring motor skills.

Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

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).

Enlargement of the anterior fontanelle with respect to age-dependent norms.

Increased length and width of the tongue.

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

Skin characterized by the lack of natural or normal moisture.

Deficiency of thyroid hormone.

Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.

A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).