Ptosis strabismus diastasis
Overview
A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
Symptoms
* Cross eyed * Drooping eyelids * Developmental delay * Undescended testes * Abdominal muscle defects * Hip dislocation * Small eyelid * Limited elbow mobility * Torticollis * Short fingers * Short toes
Causes
* Esotropia –Defined as convergent visual axes or “crossed” eyes –Amblyopia and monocular blindness usually manifests as esodeviation in 0–3-year-olds * Exotropia –Defined as divergent visual gaze –Amblyopia and monocular blindness usually manifest as exodeviation in children older than 4 years * Pseudostrabismus: In young children with wide-spaced eyes, flat nasal bridge, or prominent epicanthal folds, the patient may appear to be esotropic * Transient infantile esotropia: In the first 4 months of life, esotropia may transiently occur in normal children * Congenital esotropia –Pronounced medial deviation of one eye in the first year of life –Occurs in otherwise healthy infants * Retinoblastoma –Frequent early finding in retinoblastoma –May be due to visual impairment or space- occupying lesion + CNS etiologies –Associated with hydrocephalus and periventricular leukomalacia, especially in premature infants –Associated with intracranial masses due to CN VI compression + Möbius syndrome –VI, VII, and XII nerve palsy and variable limb anomalies * Accommodative strabismus –Result of visual discrepancy and favored use of the better eye –Also occurs during accommodation when there is significant hyperopia –The eye not in use is esotropic * Idiopathic childhood exotropia –May be alternating, or may be secondary to visual discrepancy and favored use of the better eye –The eye that is not fixed on an object is exotropic * Congenital CN III palsy –Familial, usually unilateral, ±ptosis
Diagnosis
signs and symptoms of Carnevale-Krajewska-Fischetto 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 Carnevale-Krajewska-Fischetto syndrome symptoms.
Treatment
* Ophthalmologic consultation * Transient infantile esotropia –Self-limiting * Congenital esotropia –Surgical correction before age 2 * Retinoblastoma and other tumors –Oncologic evaluation and treatment o Hydrocephalus –May or may not correct with treatment of the hydrocephalus; may require surgical intervention * Möbius syndrome –Difficult to treat * Accommodative esotropia –Corrective lenses * Idiopathic exotropia –Surgery or patching
Resources
Main name of Ptosis [strabismus - diastasis]: Carnevale-Krajewska-Fischetto syndrome Other names or spellings for Carnevale-Krajewska-Fischetto syndrome: Ptosis of eyelids with diastasis recti and hip dysplasia Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)