GTR Home > Conditions/Phenotypes > Chromosome 17q23.1-q23.2 deletion syndrome

Clinical features

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  • Small for gestational age
  • Strabismus
  • Hyperreflexia
  • Short stature
  • Aggressive behavior
  • Sacral dimple
  • Respiratory insufficiency
  • Epicanthus
  • Arachnodactyly
  • Microcephaly
  • Intrauterine growth retardation
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Long fingers
  • Shawl scrotum
  • Malar flattening
  • Postnatal growth retardation
  • Single transverse palmar crease
  • Long toe
  • Narrow mouth
  • Abnormality of the teeth
  • Hypertelorism
  • Hearing impairment
  • Otitis media
  • Blepharitis
  • Abnormality of the eyelashes
  • Behavioral abnormality
  • Slender finger
  • Muscular hypotonia
  • Intellectual disability, mild
  • Global developmental delay
  • Limitation of joint mobility
  • Defect in the atrial septum
  • Patent ductus arteriosus
  • Bicuspid aortic valve
  • Pes planus
  • Camptodactyly of toe
  • Sandal gap
  • Abnormal facial shape
  • Frontal bossing
  • Pulmonary hypertension
  • Neurological speech impairment
  • Highly arched eyebrow
  • Scoliosis
  • Abnormality of the hip bone
  • Midline defect of the nose
  • Clinodactyly of the 5th finger
  • Depressed nasal bridge
  • Abnormality of the epiphyses
  • Patellar aplasia
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