U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
Autosomal recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Joint laxity
MedGen UID:
39439
•Concept ID:
C0086437
•
Finding
Lack of stability of a joint.
See: Feature record | Search on this feature
Abnormality of the face
MedGen UID:
871375
•Concept ID:
C4025871
•
Anatomical Abnormality
An abnormality of the face.
See: Feature record | Search on this feature
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature
Show allHide all

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

Oral minoxidil treatment for hair loss: A review of efficacy and safety.
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
Female Androgenetic Alopecia: An Update on Diagnosis and Management.
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
Hair Loss: Common Causes and Treatment.
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637

Recent clinical studies

Etiology

Finasteride for hair loss: a review.
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
Benign follicular tumors.
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
Alopecia in genetic diseases.
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Albinism in Europe.
Mártinez-García M, Montoliu L
J Dermatol 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. PMID: 23668539
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Trichothiodystrophy.
Garon L, Kokta V, Coulombe J
JAMA Dermatol 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913. PMID: 37342013
Cyclic Cushing's Syndrome - A Diagnostic Challenge.
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
Female Androgenetic Alopecia: An Update on Diagnosis and Management.
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
Hair Loss: Common Causes and Treatment.
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637
Ethnic hair disorders.
Lindsey SF, Tosti A
Curr Probl Dermatol 2015;47:139-49. Epub 2015 Feb 20 doi: 10.1159/000369414. PMID: 26370652

Therapy

Finasteride for hair loss: a review.
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
Oral minoxidil treatment for hair loss: A review of efficacy and safety.
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
Post-finasteride syndrome: a surmountable challenge for clinicians.
Traish AM
Fertil Steril 2020 Jan;113(1):21-50. doi: 10.1016/j.fertnstert.2019.11.030. PMID: 32033719
Female Androgenetic Alopecia: An Update on Diagnosis and Management.
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
Nutrition and hair: deficiencies and supplements.
Finner AM
Dermatol Clin 2013 Jan;31(1):167-72. Epub 2012 Oct 18 doi: 10.1016/j.det.2012.08.015. PMID: 23159185

Prognosis

Gut microbiota dynamics in a prospective cohort of patients with post-acute COVID-19 syndrome.
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
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
The role of cadmium in obesity and diabetes.
Tinkov AA, Filippini T, Ajsuvakova OP, Aaseth J, Gluhcheva YG, Ivanova JM, Bjørklund G, Skalnaya MG, Gatiatulina ER, Popova EV, Nemereshina ON, Vinceti M, Skalny AV
Sci Total Environ 2017 Dec 1;601-602:741-755. Epub 2017 Jun 1 doi: 10.1016/j.scitotenv.2017.05.224. PMID: 28577409
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
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
Klinefelter syndrome.
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

Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Hirsutism in Women.
Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
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
Visually scoring hirsutism.
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
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Recent systematic reviews

Treatment of keratosis pilaris and its variants: a systematic review.
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
Efficacy and safety of fecal microbiota transplantation for the treatment of diseases other than Clostridium difficile infection: a systematic review and meta-analysis.
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
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
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
Comorbidities in alopecia areata: A systematic review and meta-analysis.
Lee S, Lee H, Lee CH, Lee WS
J Am Acad Dermatol 2019 Feb;80(2):466-477.e16. Epub 2018 Jul 18 doi: 10.1016/j.jaad.2018.07.013. PMID: 30031145
Oral isotretinoin for acne.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...