Chromosome 17- deletion 17q23 q24

Overview

Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.

Symptoms

The list of signs and symptoms mentioned in various sources for Chromosome 17, deletion 17q23 q24 includes the 58 symptoms listed below:

  • Microbrachycephaly
  • Craniosynostosis
  • Round face
  • Small head
  • Small jaw
  • Low set ears
  • Posteriorly rotated ears
  • Widely spaced eyes
  • Upslanting space between eyelids
  • Bulbous nose
  • Broad nasal bridge
  • Anteverted nostrils
  • Long philtrum
  • Epicanthal folds
  • Down turned mouth
  • Bifid uvula
  • Cleft palate
  • Highly arched palate
  • Widely spaced teeth
  • Widely spaced nipples
  • Pectus excavatum
  • Inguinal hernia
  • Arachnodactyly
  • Proximal thumbs
  • Talipes equinovarus
  • Symphalangism
  • Abnormal palmar creases
  • Hip dislocation
  • Clubfoot
  • Scoliosis
  • Vertebral defects
  • Reduced muscle tone
  • Hypoplastic toe nails
  • Arhinencephaly
  • Hypoplasia of frontal lobes
  • Agenesis of corpus callosum
  • Agenesis of olfactory bulbs
  • Agenesis of olfactory tracts
  • Periventricular leukomalacia of cerebral white matter
  • Heterotopic Purkinje cells in cerebellum
  • Ischemic neuronal degeneration
  • Necrosis of hippocampus
  • Seizures
  • Patent foramen ovale
  • Patent ductus arteriosus
  • Tracheo-esophageal fistula
  • Prominent clitoris
  • Widely spaced labia
  • Undescended testes
  • Growth retardation
  • Motor retardation
  • Mental retardation
  • Irritability
  • Feeding difficulty
  • Deafness
  • Breath-holding
  • Ataxic gait
  • Blindness

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 17, deletion 17q23 q24. This medical information about signs and symptoms for Chromosome 17, deletion 17q23 q24 has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 17, deletion 17q23 q24 signs or Chromosome 17, deletion 17q23 q24 symptoms. Furthermore, signs and symptoms of Chromosome 17, deletion 17q23 q24 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 Chromosome 17, deletion 17q23 q24 symptoms.