U.S. flag

An official website of the United States government

GTR Home > Tests > Schinzel-Giedion syndrome

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

Imported from OMIM

Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Clubfoot
  • Atrial septal defect
  • Hydronephrosis
  • Hypertelorism
  • Hypertrichosis
  • Macroglossia
  • Seizure
  • Teratoma
  • Opisthotonus
  • Hepatoblastoma
  • Cerebral atrophy
  • Low-set ears
  • High forehead
  • Bicornuate uterus
  • Hypoplasia of the corpus callosum
  • Hyperconvex nail
  • Single transverse palmar crease
  • Long clavicles
  • Postaxial hand polydactyly
  • Hypoplastic nipples
  • Small scrotum
  • Short neck
  • Ureteral stenosis
  • Hydroureter
  • Sacrococcygeal teratoma
  • Hypoplastic labia majora
  • Short sternum
  • Choanal stenosis
  • Hypsarrhythmia
  • Hypospadias
  • Hypoplasia of first ribs
  • Depressed nasal bridge
  • Tibial bowing
  • Prominent forehead
  • Short distal phalanx of finger
  • Anteverted nares
  • Thickened cortex of long bones
  • Coarse facial features
  • Broad ribs
  • Hypoplastic labia minora
  • Widely patent fontanelles and sutures
  • Aplasia/Hypoplasia of the pubic bone
  • Increased density of long bones
  • Wide distal femoral metaphysis
  • Short 1st metacarpal
  • Sclerosis of skull base
  • Midface retrusion
  • Short nose
  • Sloping forehead
  • Malar flattening
  • Postnatal growth retardation
  • Facial hemangioma
  • Shallow orbits
  • Failure to thrive
  • Ventriculomegaly
  • Wormian bones
  • Intellectual disability
  • Metopic suture patent to nasal root
  • Abnormal nasopharynx morphology
  • Micropenis
  • Splenopancreatic fusion
Show all

Conditions tested

Target population

Help

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.