Femoral facial syndrome
Overview
A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
Symptoms
* Small stature * Short legs * Short nose * Underdeveloped nostrils * Long philtrum * Thin upper lip * Small lower jaw * Cleft palate * Up-slanting space between eyelids * Low set ears * Poorly formed ears * Absent femur * Underdeveloped femur * Underdeveloped fibula * Underdeveloped tibia * Underdeveloped elbow * Restricted elbow movement * Fusion of radial and ulnar bones * Radiohumeral bone fusion * Limited shoulder movement * Sprengel deformity * Clubfoot * Underdeveloped acetabulae * Constricted iliac base * Large obturator foramina * Dysplastic sacrum * Missing vertebrae * Hemivertebrae * Sacralization of lumbar vertebrae * Scoliosis * Undescended testes * Inguinal hernia * Small penis * Small testes * Small labia majora * Polycystic kidneys * Absent kidneys * Abnormal genitourinary collecting system * Movement difficulty
Diagnosis
This medical information about signs and symptoms for Femoral facial syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Femoral facial syndrome signs or Femoral facial syndrome symptoms. Furthermore, signs and symptoms of Femoral facial 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 Femoral facial syndrome symptoms.