Cartilage hair hypoplasia like syndrome

Overview

Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.

Symptoms

The list of signs and symptoms mentioned in various sources for Cartilage-hair hypoplasia-like syndrome includes the 20 symptoms listed below: * Reduced diameter of hair shaft * Short limbs * Short stature * Decreased pubertal growth spurt * Absent pubertal growth spurt * Bowed legs * Prominent heel * Flat feet * Short hands * Loose-jointed hands * Loose-jointed feet * Incomplete extension of elbow * Mild flaring of lower rib cage * Prominent sternum * Lumbar lordosis * Scoliosis * Small pelvic inlet * Flared metaphyses * Scalloped metaphyses * Short tibia

Causes

* Bowed legs * Flat feet * Lumbar lordosis * Prominent sternum * Scoliosis * Short stature

Diagnosis

The phrase "signs of Cartilage-hair hypoplasia-like syndrome" should, strictly speaking, refer only to those signs and symptoms of Cartilage-hair hypoplasia-like syndrome that are not readily apparent to the patient. The word "symptoms of Cartilage-hair hypoplasia-like syndrome" is the more general meaning; see symptoms of Cartilage-hair hypoplasia-like syndrome. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Cartilage-hair hypoplasia-like syndrome. This medical information about signs and symptoms for Cartilage-hair hypoplasia-like syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Cartilage-hair hypoplasia-like syndrome signs or Cartilage-hair hypoplasia-like syndrome symptoms. Furthermore, signs and symptoms of Cartilage-hair hypoplasia-like syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cartilage-hair hypoplasia-like syndrome symptoms.