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Osteopenia-intellectual disability-sparse hair syndrome

MedGen UID:
337979
Concept ID:
C1850140
Disease or Syndrome
Synonyms: Kaler Garrity Stern syndrome; Osteopenia and sparse hair; Osteopenia mental retardation sparse hair
SNOMED CT: Kaler Garrity Stern syndrome (732954002); Osteopenia, intellectual disability, sparse hair syndrome (732954002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009814
OMIM®: 259690
Orphanet: ORPHA2324

Definition

A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. [from SNOMEDCT_US]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Abnormality of the face
MedGen UID:
871375
Concept ID:
C4025871
Anatomical Abnormality
An abnormality of the face.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteopenia-intellectual disability-sparse hair syndrome
Follow this link to review classifications for Osteopenia-intellectual disability-sparse hair syndrome in Orphanet.

Professional guidelines

PubMed

Randolph M, Tosti A
J Am Acad Dermatol 2021 Mar;84(3):737-746. Epub 2020 Jul 2 doi: 10.1016/j.jaad.2020.06.1009. PMID: 32622136
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637

Recent clinical studies

Etiology

Gupta AK, Venkataraman M, Talukder M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1938-1946. Epub 2021 Aug 2 doi: 10.1080/09546634.2021.1959506. PMID: 34291720
Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP
An Bras Dermatol 2015 Nov-Dec;90(6):780-96; quiz 797-8. doi: 10.1590/abd1806-4841.20154114. PMID: 26734858Free PMC Article
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Mártinez-García M, Montoliu L
J Dermatol 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. PMID: 23668539
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Garon L, Kokta V, Coulombe J
JAMA Dermatol 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913. PMID: 37342013
Świątkowska-Stodulska R, Berlińska A, Stefańska K, Kłosowski P, Sworczak K
Front Endocrinol (Lausanne) 2021;12:658429. Epub 2021 Apr 22 doi: 10.3389/fendo.2021.658429. PMID: 33967962Free PMC Article
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637
Lindsey SF, Tosti A
Curr Probl Dermatol 2015;47:139-49. Epub 2015 Feb 20 doi: 10.1159/000369414. PMID: 26370652

Therapy

Gupta AK, Venkataraman M, Talukder M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1938-1946. Epub 2021 Aug 2 doi: 10.1080/09546634.2021.1959506. PMID: 34291720
Randolph M, Tosti A
J Am Acad Dermatol 2021 Mar;84(3):737-746. Epub 2020 Jul 2 doi: 10.1016/j.jaad.2020.06.1009. PMID: 32622136
Traish AM
Fertil Steril 2020 Jan;113(1):21-50. doi: 10.1016/j.fertnstert.2019.11.030. PMID: 32033719
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Praetorius C, Sturm RA, Steingrimsson E
Pigment Cell Melanoma Res 2014 May;27(3):339-50. Epub 2014 Mar 3 doi: 10.1111/pcmr.12232. PMID: 24517859

Prognosis

Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
Liu Q, Mak JWY, Su Q, Yeoh YK, Lui GC, Ng SSS, Zhang F, Li AYL, Lu W, Hui DS, Chan PK, Chan FKL, Ng SC
Gut 2022 Mar;71(3):544-552. Epub 2022 Jan 26 doi: 10.1136/gutjnl-2021-325989. PMID: 35082169
Pediatr Dermatol 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. PMID: 31778571
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
Smyth CM, Bremner WJ
Arch Intern Med 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309. PMID: 9645824

Clinical prediction guides

Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
Praetorius C, Sturm RA, Steingrimsson E
Pigment Cell Melanoma Res 2014 May;27(3):339-50. Epub 2014 Mar 3 doi: 10.1111/pcmr.12232. PMID: 24517859
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
Yildiz BO, Bolour S, Woods K, Moore A, Azziz R
Hum Reprod Update 2010 Jan-Feb;16(1):51-64. doi: 10.1093/humupd/dmp024. PMID: 19567450Free PMC Article

Recent systematic reviews

Ly S, Manjaly P, Kamal K, Shields A, Wafae B, Afzal N, Drake L, Sanchez K, Gregoire S, Zhou G, Mita C, Mostaghimi A
Am J Clin Dermatol 2023 Nov;24(6):875-893. Epub 2023 Jul 18 doi: 10.1007/s40257-023-00805-4. PMID: 37464249
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Green JE, Davis JA, Berk M, Hair C, Loughman A, Castle D, Athan E, Nierenberg AA, Cryan JF, Jacka F, Marx W
Gut Microbes 2020 Nov 9;12(1):1-25. doi: 10.1080/19490976.2020.1854640. PMID: 33345703Free PMC Article
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472
Costa CS, Bagatin E, Martimbianco ALC, da Silva EM, Lúcio MM, Magin P, Riera R
Cochrane Database Syst Rev 2018 Nov 24;11(11):CD009435. doi: 10.1002/14651858.CD009435.pub2. PMID: 30484286Free PMC Article

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