Kleefstra syndrome
Synonyms
1
Overview
A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
Symptoms
* Midface hypoplasia * Small head * Long head * Supraorbital ridges * Prominent back of skull * Low-set ears * Malformed ears * Downward slanting space between eyelids * Foveal hypoplasia * Small nose * Flat nasal bridge * Anteverted nostrils * Epicanthal folds * Pectus excavatum * Single umbilical artery * Talipes equinovarus * Short third metatarsal bones * Single transverse palmar crease * Left Sidney line * Reduced muscle tone * Capillary hemangiomas on eyelids * Capillary hemangiomas on neck * Arhinencephaly * Absent deep tendon reflexes * Supraventricular tachycardia * Tracheomalacia * Intestinal malrotation * Gastro-esophageal reflux * Hypospadias * Mental retardation * Growth retardation * Feeding difficulty
Diagnosis
signs and symptoms of Chromosome 9q deletion 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 Chromosome 9q deletion syndrome symptoms.