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Elfin facies

MedGen UID:
87157
Concept ID:
C0332606
Sign or Symptom
Synonyms: Elf-like facial appearance; Elf-like facial features; Leprechaun facies
SNOMED CT: Elfin facies (69288002)
 
HPO: HP:0004428

Definition

This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElfin facies

Conditions with this feature

Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Pili torti-developmental delay-neurological abnormalities syndrome
MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019).
Rajab interstitial lung disease with brain calcifications 2
MedGen UID:
1770895
Concept ID:
C5436603
Disease or Syndrome
Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).

Recent clinical studies

Etiology

Actis Dato GM, La Torre M, Caimmi P, Actis Dato A Jr, Centofanti P, Ottino GM, Di Summa M
J Cardiovasc Surg (Torino) 1997 Apr;38(2):125-9. PMID: 9201121
Kapp ME, von Noorden GK, Jenkins R
Am J Ophthalmol 1995 Mar;119(3):355-60. doi: 10.1016/s0002-9394(14)71180-8. PMID: 7503839
West M, McIlvaine R, Sells CJ
Soc Work Health Care 1979 Spring;4(3):287-98. doi: 10.1300/J010v04n03_04. PMID: 472979

Diagnosis

Bagul PK, Borgaonkar DV, Jaiswal V, Phadke MS, Lanjewar CP, Kerkar PG
Indian Heart J 2015 Mar-Apr;67(2):156-8. Epub 2015 May 14 doi: 10.1016/j.ihj.2015.02.026. PMID: 26071298Free PMC Article
Saad K, Abdelrahman AA, Abdallah AM, Othman HA, Badry R
Asian J Psychiatr 2013 Dec;6(6):560-5. Epub 2013 Aug 27 doi: 10.1016/j.ajp.2013.08.069. PMID: 24309873
Kapp ME, von Noorden GK, Jenkins R
Am J Ophthalmol 1995 Mar;119(3):355-60. doi: 10.1016/s0002-9394(14)71180-8. PMID: 7503839
Kataria S, Goldstein DJ, Kushnick T
Appl Res Ment Retard 1984;5(4):419-23. doi: 10.1016/s0270-3092(84)80035-1. PMID: 6084474
Babbitt DP, Dobbs J, Boedecker RA
Pediatr Radiol 1979 Feb 26;8(1):29-31. doi: 10.1007/BF00973674. PMID: 107508

Therapy

Ionel DL, Odago FO, Ene AN, Lee JD, O'Connor WN, Goldstein LB, Pettigrew LC
J Stroke Cerebrovasc Dis 2022 Apr;31(4):106317. Epub 2022 Feb 2 doi: 10.1016/j.jstrokecerebrovasdis.2022.106317. PMID: 35123277
Ghirri P, Bottone U, Coccoli L, Bernardini M, Vuerich M, Cuttano A, Riparbelli C, Pellegrinetti G, Boldrini A
J Endocrinol Invest 1999 May;22(5):349-53. doi: 10.1007/BF03343572. PMID: 10401708
Narasimhan C, Alexander T, Krishnaswami S
Pediatr Cardiol 1993 Mar;14(2):124-6. doi: 10.1007/BF00796994. PMID: 8469630
Voit T, Kramer H, Thomas C, Wechsler W, Reichmann H, Lenard HG
Eur J Pediatr 1991 May;150(7):521-6. doi: 10.1007/BF01958438. PMID: 1915507
Garabédian M, Jacqz E, Guillozo H, Grimberg R, Guillot M, Gagnadoux MF, Broyer M, Lenoir G, Balsan S
N Engl J Med 1985 Apr 11;312(15):948-52. doi: 10.1056/NEJM198504113121503. PMID: 3838365

Prognosis

Saad K, Abdelrahman AA, Abdallah AM, Othman HA, Badry R
Asian J Psychiatr 2013 Dec;6(6):560-5. Epub 2013 Aug 27 doi: 10.1016/j.ajp.2013.08.069. PMID: 24309873
Actis Dato GM, La Torre M, Caimmi P, Actis Dato A Jr, Centofanti P, Ottino GM, Di Summa M
J Cardiovasc Surg (Torino) 1997 Apr;38(2):125-9. PMID: 9201121
Garabédian M, Jacqz E, Guillozo H, Grimberg R, Guillot M, Gagnadoux MF, Broyer M, Lenoir G, Balsan S
N Engl J Med 1985 Apr 11;312(15):948-52. doi: 10.1056/NEJM198504113121503. PMID: 3838365
Marx SJ, Swart EG Jr, Hamstra AJ, DeLuca HF
J Clin Endocrinol Metab 1980 Nov;51(5):1138-42. doi: 10.1210/jcem-51-5-1138. PMID: 6893458
West M, McIlvaine R, Sells CJ
Soc Work Health Care 1979 Spring;4(3):287-98. doi: 10.1300/J010v04n03_04. PMID: 472979

Clinical prediction guides

Danoff SK, Taylor HE, Blackshaw S, Desiderio S
Neuroscience 2004;123(4):931-8. doi: 10.1016/j.neuroscience.2003.08.038. PMID: 14751286
Garabédian M, Jacqz E, Guillozo H, Grimberg R, Guillot M, Gagnadoux MF, Broyer M, Lenoir G, Balsan S
N Engl J Med 1985 Apr 11;312(15):948-52. doi: 10.1056/NEJM198504113121503. PMID: 3838365

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