Fibrochondrogenesis
Overview
A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
Symptoms
* Short stature * Widely patent anterior fontanel * Widely patent coronal sutures * Widely patent sagittal sutures * Protuberant eyes * Large corneas * Underdeveloped nose * Flat nasal bridge * Anteverted nostrils * Long philtrum * Cleft palate * Short neck * Low-set ears * Malformed ears * Flattened vertebrae * Underdeveloped posterior vertebrae * Sagittal midline cleft * Short ribs * Thin ribs * Cupping of ends of ribs * Long clavicle * Thin clavicle * Small chest * Rhizomelic shortening * Small hands * Small feet * Camptodactyly * Fifth finger clinodactyly * Underdeveloped fingers * Underdeveloped toes * Short long bones * Dumbbell-shaped long bones * Broad metaphyses of long bones * Irregular metaphyses of long bones * Prominent metaphyseal spurs * Short fibulae * Underdeveloped pelvis * Ovoid ilia * Irregular acetabula * Flattened acetabula * Medical spikes on pelvis * Narrow sacrosciatic notches * Proad ischii * Underdeveloped ischii * Omphalocele * Hydrops
Diagnosis
This medical information about signs and symptoms for Fibrochondrogenesis has been gathered from various sources, may not be fully accurate, and may not be the full list of Fibrochondrogenesis signs or Fibrochondrogenesis symptoms. Furthermore, signs and symptoms of Fibrochondrogenesis 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 Fibrochondrogenesis symptoms.