Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ 5p-Deletion of 5pChromosome 5p deletion syndrome5p minus deletion syndrome1Cat cry syndrome1 ++ 758.31 Cri-du-chat syndrome ++ Q93.4 Deletion of short arm of chromosome 5 ++ 5C: Impaired motor function and sensory integrity associated with nonprogressive disorders of the central nervous system—congenital origin or acquired in infancy or childhood2 +++ Description ++ Genetic disorder: deletion of terminal chromosome 5pCry that sounds like a cat (likely due to abnormal shape in larynx and epiglottis)3Characteristic facial features3Developmental delay in gross motor skills, oral motor skills, and speech and/or language skills +++ Essentials of Diagnosis ++ Abnormality of chromosome 5 with deletion of short arm +++ General Considerations ++ Associated disordersScoliosis3Diastasis rectii4CataractsAbnormalities in organs3 +++ Demographics ++ 1 in 20,000-50,000 births5More common in females than males6 +++ Signs and Symptoms ++ High pitched, cat-like cryFeeding difficulties6Hypotonia3Microcephaly3Micrognathia3Failure to thrive4Delays inGross motor skillsOral motor skills7Speech and/or language skills7Cognitive/Intellectual disabilityStereotypic movements6Behavioral issues6Hyperacusis6 +++ Functional Implications ++ Poor head control as infantPoor trunk control; delay in sitting independentlyLate walkingCognitive impairment350% are hyperactive3 +++ Possible Contributing Causes ++ Defect in either the egg or sperm1 +++ Differential Diagnosis ++ Patau syndrome6Wolf-Hischhorn syndrome6 +++ Laboratory Tests ++ DNA analysis3 +++ Imaging ++ Skeletal radiographs for microcephaly and short metacarpals6MRI to assess for atrophy6Echocardiography to rule out cardiac defects6Barium swallow study6 ++ Organ anomaliesVentricular septal defect8 ++ GeneticistOphthalmologist for possible cataractsOrthopedics for possible scoliosis or pes planusNeurologyOccupational therapySpeech therapy ++ Decreased strengthPoor head controlPoor trunk control ++ Bayley Scales of Motor Development or Bayley IIPeabody Scales of Motor DevelopmentMovement Assessment of InfantsNeonatal Behavioral Assessment ScaleEarly Intervention Developmental ProfileTest of Infant Motor PerformanceAlberta Infant Motor Scale ++ Behavior modificationDevelopmental activitiesFacilitation of normal movement patternsAcquisition of motor milestones through facilitationTherapeutic exerciseStrengtheningBalance trainingCoordination tasksRecommendations for adaptive equipment as needed ++ Sustain prone on elbows with 45° cervical extension for 30 to 60 seconds independently within 3 monthsBrings hands to midline to reach for a toy when in supine within 1 monthSits for 15 to 30 seconds while propping with hands on the floor within 6 ... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.