Achondroplasia - NORD (National Organization for Rare Disorders) - achondroplasia facial abnormalities

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achondroplasia facial abnormalities - Achondroplasia - OrthoInfo -AAOS


Additional disorders may be characterized by small stature and disproportionately short arms and legs (short-limbed dwarfism), abnormal enlargement of the head (macrocephaly), additional malformations of the skull and facial (craniofacial) region, and/or other symptoms and findings similar to those potentially associated with achondroplasia. Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature Author: Rose Kivi.

Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities. Limb shortening and typical facial features become apparent >22 weeks’ gestation. Investigations: Detailed ultrasound examination. Achondroplasia is due to a mutation in the FGFR3 gene and has autosomal dominant inheritance pattern. The diagnosis can be made by invasive testing or cfDNA analysis of maternal blood.

• As per achondroplasia but NORMAL FACIAL FEATURES but has CERVICAL INSTABILITY • Normal development up to age 2 years (which differs from achondroplasia) • Differentiated from achondroplasia by absence of FACIAL ABNORMALITIES and SHORTENED LUMBAR SPINE and presence of CERVICAL INSTABILITY.