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Hyperostosis interna frontalis

MedGen UID:
9367
Concept ID:
C0020494
Disease or Syndrome
Synonyms: Hyperostosis frontalis interna, obesity, shortness and cognitive impairment; Morgagni-Stewart-Morel syndrome; MSM syndrome
SNOMED CT: Hyperostosis interna frontalis (82054006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
HPO: HP:0004438
Monarch Initiative: MONDO:0007766
OMIM®: 144800
Orphanet: ORPHA77296

Definition

Bony overgrowth of the internal (endosteal) surface of the frontal bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperostosis interna frontalis
Follow this link to review classifications for Hyperostosis interna frontalis in Orphanet.

Conditions with this feature

Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Disease or Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.

Professional guidelines

PubMed

May H, Peled N, Dar G, Cohen H, Abbas J, Medlej B, Hershkovitz I
Int J Legal Med 2011 Sep;125(5):669-73. Epub 2010 Jul 23 doi: 10.1007/s00414-010-0497-6. PMID: 20652712

Recent clinical studies

Etiology

Mutlu U, Telci Caklili O, Barburoglu M, Yarman S
Hormones (Athens) 2023 Mar;22(1):25-32. Epub 2022 Oct 12 doi: 10.1007/s42000-022-00401-x. PMID: 36223065
Vuković M, Vujanić M, Nosek I, Stojić I, Jakobsen W, Kozić D
Arch Ital Biol 2020 Jun 30;158(2):57-63. doi: 10.12871/00039829202023. PMID: 33462799
Cvetković D, Jadžić J, Milovanović P, Djonić D, Djurić M, Bracanović D, Nikolić S, Živković V
Calcif Tissue Int 2020 Oct;107(4):345-352. Epub 2020 Jul 25 doi: 10.1007/s00223-020-00730-2. PMID: 32712779
Djonic D, Bracanovic D, Rakocevic Z, Ivovic M, Nikolic S, Zivkovic V, Djuric M
Women Health 2016 Nov-Dec;56(8):994-1007. Epub 2016 Apr 19 doi: 10.1080/03630242.2016.1178685. PMID: 27093135
May H, Peled N, Dar G, Abbas J, Medlej B, Masharawi Y, Hershkovitz I
Anat Rec (Hoboken) 2010 Aug;293(8):1333-6. doi: 10.1002/ar.21175. PMID: 20665812

Diagnosis

Lakhani DA, Deng F
Radiology 2024 May;311(2):e233506. doi: 10.1148/radiol.233506. PMID: 38805734
Sabanis N, Paschou E, Drylli A, Papanikolaou P, Zagkotsis G
Saudi J Kidney Dis Transpl 2022 Sep 1;33(5):702-715. Epub 2023 Nov 7 doi: 10.4103/1319-2442.389430. PMID: 37955462
Guimarães LM, Valeriano AT, Rebelo Pontes HA, Gomez RS, Gomes CC
Oral Surg Oral Med Oral Pathol Oral Radiol 2022 May;133(5):547-555. Epub 2021 Aug 30 doi: 10.1016/j.oooo.2021.08.020. PMID: 35181256
Shim J, Yu R
Sultan Qaboos Univ Med J 2018 May;18(2):e243-e244. Epub 2018 Sep 9 doi: 10.18295/squmj.2018.18.02.023. PMID: 30210861Free PMC Article
Hershkovitz I, Greenwald C, Rothschild BM, Latimer B, Dutour O, Jellema LM, Wish-Baratz S
Am J Phys Anthropol 1999 Jul;109(3):303-25. doi: 10.1002/(SICI)1096-8644(199907)109:3<303::AID-AJPA3>3.0.CO;2-I. PMID: 10407462

Therapy

Sabanis N, Paschou E, Drylli A, Papanikolaou P, Zagkotsis G
Saudi J Kidney Dis Transpl 2022 Sep 1;33(5):702-715. Epub 2023 Nov 7 doi: 10.4103/1319-2442.389430. PMID: 37955462
Gameiro J, Duarte I, Outerelo C, Lopes JA
J Bras Nefrol 2019 Apr-Jun;41(2):304-305. Epub 2019 Jan 21 doi: 10.1590/2175-8239-JBN-2018-0198. PMID: 30720853Free PMC Article
Belcastro MG, Todero A, Fornaciari G, Mariotti V
J Anat 2011 Nov;219(5):632-7. Epub 2011 Jul 11 doi: 10.1111/j.1469-7580.2011.01413.x. PMID: 21740437Free PMC Article
May H, Peled N, Dar G, Abbas J, Medlej B, Masharawi Y, Hershkovitz I
Anat Rec (Hoboken) 2010 Aug;293(8):1333-6. doi: 10.1002/ar.21175. PMID: 20665812
Fulton JD, Shand J, Ritchie D, McGhee J
Postgrad Med J 1990 Jan;66(771):16-9. doi: 10.1136/pgmj.66.771.16. PMID: 2349162Free PMC Article

Prognosis

Alvarez L, Corrigan W, McGonegal C, Leon J, Avila D, Kane F, Lee T
Clin Anat 2024 Jul;37(5):505-521. Epub 2024 Feb 29 doi: 10.1002/ca.24147. PMID: 38420744
Stiene JM, Frank PW
Am J Case Rep 2022 Oct 11;23:e937450. doi: 10.12659/AJCR.937450. PMID: 36217295Free PMC Article
Cvetković D, Nikolić S, Brković V, Živković V
Sci Justice 2019 Mar;59(2):172-176. Epub 2018 Sep 24 doi: 10.1016/j.scijus.2018.09.005. PMID: 30798865
May H, Peled N, Dar G, Hay O, Abbas J, Masharawi Y, Hershkovitz I
Anat Rec (Hoboken) 2010 Dec;293(12):2007-11. doi: 10.1002/ar.21274. PMID: 21046669
Hershkovitz I, Greenwald C, Rothschild BM, Latimer B, Dutour O, Jellema LM, Wish-Baratz S
Am J Phys Anthropol 1999 Jul;109(3):303-25. doi: 10.1002/(SICI)1096-8644(199907)109:3<303::AID-AJPA3>3.0.CO;2-I. PMID: 10407462

Clinical prediction guides

Hogg RT, Smith TD
Anat Rec (Hoboken) 2024 Oct;307(10):3364-3374. Epub 2024 Mar 28 doi: 10.1002/ar.25438. PMID: 38544465
May H, Peled N, Dar G, Abbas J, Hershkovitz I
Am J Hum Biol 2011 May-Jun;23(3):392-7. Epub 2011 Mar 8 doi: 10.1002/ajhb.21156. PMID: 21387460
May H, Peled N, Dar G, Hay O, Abbas J, Masharawi Y, Hershkovitz I
Anat Rec (Hoboken) 2010 Dec;293(12):2007-11. doi: 10.1002/ar.21274. PMID: 21046669
Devriendt W, Piercecchi-Marti MD, Adalian P, Sanvoisin A, Dutour O, Leonetti G
J Forensic Sci 2005 Jan;50(1):143-6. PMID: 15831008
Hershkovitz I, Greenwald C, Rothschild BM, Latimer B, Dutour O, Jellema LM, Wish-Baratz S
Am J Phys Anthropol 1999 Jul;109(3):303-25. doi: 10.1002/(SICI)1096-8644(199907)109:3<303::AID-AJPA3>3.0.CO;2-I. PMID: 10407462

Recent systematic reviews

Alvarez L, Corrigan W, McGonegal C, Leon J, Avila D, Kane F, Lee T
Clin Anat 2024 Jul;37(5):505-521. Epub 2024 Feb 29 doi: 10.1002/ca.24147. PMID: 38420744
Bernstock JD, Torio EF, Raghu ALB, Chua M, Chen JA, Segar D, Gupta S, White PJ, McDannold N, Golby AJ, Cosgrove GR
Stereotact Funct Neurosurg 2022;100(5-6):331-339. Epub 2022 Dec 15 doi: 10.1159/000527232. PMID: 36521432

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