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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).
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 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.
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
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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

Central nervous system involvement in individuals with RASopathies.
Weaver KN, Gripp KW
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):494-500. Epub 2022 Dec 1 doi: 10.1002/ajmg.c.32023. PMID: 36454176
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
Hair loss in children.
Alves R, Grimalt R
Curr Probl Dermatol 2015;47:55-66. Epub 2015 Feb 20 doi: 10.1159/000369405. PMID: 26370644
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

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
Vitamins A, B, C, and D: A Short Review for the Dermatologist.
Coerdt KM, Goggins CA, Khachemoune A
Altern Ther Health Med 2021 Jul;27(4):41-49. PMID: 33245705
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

Prognosis

PNPLA6 disorders: what's in a name?
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
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
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
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

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
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
PCOS.
Cahill D
BMJ Clin Evid 2009 Jan 15;2009 PMID: 19445767Free PMC Article

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