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 click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. 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 Username Error: Please enter User Name Password Error: Please enter Password Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth