Hypochondroplasia kid: Atlas of Genetic Diagnosis and Counseling

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

Monday, July 12, 2010

Atlas of Genetic Diagnosis and Counseling

by: Dr. Harold Chen
Diagnostic Investigations

Clinical Features
short stature
stocky build
facial appearence
skeletal features
limbs
1. disproprtionately short compared w/ the length of trunk
2.mild limitation of elbow extention
3.broad short hands/feet
4.bow legs(usally mild)
5.adult onset osteoarthritus
scoliosis
slight lumbar lordosis with a sacral tilt

some common features
short proximaland or middle segments of the longbones with mild metaphyseal flare.
narrowing or unchanged lumbar
short broad femoral neck
shortening of the distal ulna
prominence of muscle insertions on the long bones