GTR Home > Conditions/Phenotypes > 5p partial monosomy syndrome

Summary

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from OMIM]

Available tests

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Clinical features

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  • Small for gestational age
  • Strabismus
  • Hypertonia
  • Round face
  • Short attention span
  • Premature graying of hair
  • Difficulty walking
  • Short stature
  • Aggressive behavior
  • Short neck
  • Epicanthus
  • Neonatal hypotonia
  • Long face
  • Narrow face
  • Microretrognathia
  • Prominent supraorbital ridges
  • Intellectual disability
  • Short metatarsal
  • Recurrent infections in infancy and early childhood
  • Microcephaly
  • Finger syndactyly
  • Intrauterine growth retardation
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Short philtrum
  • Downslanted palpebral fissures
  • Downturned corners of mouth
  • Micrognathia
  • Single transverse palmar crease
  • Cataract
  • Anxiety
  • Syndactyly
  • Self-mutilation
  • Feeding difficulties in infancy
  • Inguinal hernia
  • Cryptorchidism
  • Hypospadias
  • Abnormality of the kidney
  • Abnormality of the palate
  • Thick lower lip vermilion
  • Bifid uvula
  • Oral cleft
  • High palate
  • Facial grimacing
  • Hypertelorism
  • Facial asymmetry
  • Hearing impairment
  • Low-set ears
  • Abnormality of the pinna
  • Preauricular skin tag
  • Stenosis of the external auditory canal
  • Wide nasal bridge
  • Myopia
  • Optic atrophy
  • Autism
  • Stereotypic behavior
  • Delayed speech and language development
  • Hyperactivity
  • High axial triradius
  • Muscular hypotonia
  • Joint hypermobility
  • Growth delay
  • Diastasis recti
  • Abnormality of the voice
  • Pes planus
  • Metatarsus adductus
  • Gastroesophageal reflux
  • Malformation of the heart and great vessels
  • Scoliosis
  • Recurrent fractures
  • Functional respiratory abnormality
  • Abnormality of chromosome segregation
  • Short palm
  • Hernia of the abdominal wall
  • Abnormality of bone mineral density
  • Anterior open-bite malocclusion
  • Short metacarpal
  • Echolalia
  • Hyperacusis
  • Oppositional defiant disorder
  • Conspicuously happy disposition
  • Overfriendliness
  • Cat cry
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