Lowry syndrome
Overview
A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
Symptoms
* Craniofacial abnormalities o Underdeveloped upper jaw bone (maxillary hypoplasia) o Abnormally prominent brow o Downslanting eyelid folds (palpebral fissures) o Widely spaced eyes (hypertelorism) o Large ears o Unusually thick eyebrows * Skeletal abnormalities o Kyphoscoliosis o Unusual prominence of the breastbone (pectus carinatum) o Short, tapered fingers * Mental retardation * Short stature * Hypotonia * Feeding problems * Respiratory problems * Developmental delay * Hearing impairment * Awkward gait * Flat feet * Heart problems * Kidney problems * Growth deficiency * Mental deficiency * Weakness * Reduced muscle tone * Coarse face * Down slanting space between eyelids * Maxillary hypoplasia * Widely spaced eyes * Prominent brow * Short nose * Broad nose * Thick nose flaps * Thick nose septum * Forward tilting nostrils * Large mouth * Open mouth * Thick lower lip * Everted lower lip * Prominent ears * Missing teeth * Malocclusion * Widely spaced teeth * Large front middle teeth * Anterior superior marginal vertebral defects * Thoracolumbar scoliosis * Kyphosis * Large hands * Soft hands * Tapering fingers * Small fingernails * Accessory transverse hypothenar crease * Flat feet * Loose ligaments * Bushy eyebrows * Hairiness * Drooping upper eyelid * Flared nostrils * Elongated philtrum * Furrowed tongue * Simian crease * Hydrocephalus * Brain ventricular dilatation * Seizures * Speech retardation * Clumsy gait
Diagnosis
Furthermore, signs and symptoms of Coffin-Lowry 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 Coffin-Lowry syndrome symptoms.
Prognosis
The 'prognosis' of Coffin-Lowry syndrome usually refers to the likely outcome of Coffin-Lowry syndrome. The prognosis of Coffin-Lowry syndrome may include the duration of Coffin-Lowry syndrome, chances of complications of Coffin-Lowry syndrome, probable outcomes, prospects for recovery, recovery period for Coffin-Lowry syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Coffin-Lowry syndrome. Naturally, such forecast issues are by their nature unpredictable.
Treatment
There is no cure and no standard course of treatment for Coffin-Lowry syndrome.