Generalized Skeletal Malformations:
Achondroplasia (ACH): the common cause of dwarfism (shortness of stature). It is symptoms are: bowed and short limbs, short trunk, an enlarged head is with a bulging forehead, and ‘scooped-out’ nose. It is an autosomal dominant.
Thanatophoriv dysplasia: the most common neonatal lethal form of skeletal dysplasia. It has two type, and all of them are autosomal dominant. Type 1 is characterized by short, curved femurs, while type 2 is characterized by straight, relatively long femurs.
Acromegaly and Gigantism: are caused by congenital hyperpituitarism and excessive secretion of growth hormone. Acromegaly disproportion enlargement of the face, hand, and feet. Gigantism is excessive height and body proportion.
Cretinism: occur due to congenital hypothyroidism or agenesis (absent of thyroid gland). It is characterized by growth retardation, mental deficiency, skeletal abnormalities, and auditory and neurological disorders.
Thanatophoriv dysplasia: the most common neonatal lethal form of skeletal dysplasia. It has two type, and all of them are autosomal dominant. Type 1 is characterized by short, curved femurs, while type 2 is characterized by straight, relatively long femurs.
Acromegaly and Gigantism: are caused by congenital hyperpituitarism and excessive secretion of growth hormone. Acromegaly disproportion enlargement of the face, hand, and feet. Gigantism is excessive height and body proportion.
Cretinism: occur due to congenital hypothyroidism or agenesis (absent of thyroid gland). It is characterized by growth retardation, mental deficiency, skeletal abnormalities, and auditory and neurological disorders.