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Scheuermann-like vertebral changes

MedGen UID:
335057
Concept ID:
C1844926
Finding
HPO: HP:0008478

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScheuermann-like vertebral changes

Conditions with this feature

Borjeson-Forssman-Lehmann syndrome
MedGen UID:
78557
Concept ID:
C0265339
Disease or Syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006).

Recent clinical studies

Therapy

Levin TL, Sheth S, Berdon WE, Ruzal-Shapiro C, Piomelli S
Pediatr Radiol 1995 Nov;25 Suppl 1:S122-4. PMID: 8577502

Prognosis

Levin TL, Sheth S, Berdon WE, Ruzal-Shapiro C, Piomelli S
Pediatr Radiol 1995 Nov;25 Suppl 1:S122-4. PMID: 8577502

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