Seckel syndrome
Definition
Seckel syndrome is an extremely rare inherited disorder characterized by low birth weight, dwarfism, a very small head, mental retardation, and unusual characteristic facial features, including a "beak-like" protrusion of the nose, large eyes, a narrow face, low ears, and an unusually small jaw. Common signs also include abnormalities of bones in the arms and legs.
Description
Seckel syndrome is one of the microcephalic primordial dwarfism syndromes—a category of disorders characterized by profound growth delay. It is marked by dwarfism, a small head, developmental delay, and mental retardation. Abnormalities may also be found in the cardiovascular, hematopoietic, endocrine, and central nervous systems. Children with the disorder are often hyperactive and easily distracted; about...
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