U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

MedGen UID:
340966
Concept ID:
C1855787
Disease or Syndrome
Synonyms: Ichthyosis intellectual deficit dwarfism renal impairment; Ichthyosis, mental retardation, dwarfism and renal impairment
 
Monarch Initiative: MONDO:0009446
OMIM®: 242530
Orphanet: ORPHA2278

Definition

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. [from ORDO]

Clinical features

From HPO
Kidney disorder
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Decreased glomerular filtration rate
MedGen UID:
163428
Concept ID:
C0853068
Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
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.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis-intellectual disability-dwarfism-renal impairment syndrome
Follow this link to review classifications for Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome in Orphanet.

Professional guidelines

PubMed

Tomkins M, Lawless S, Martin-Grace J, Sherlock M, Thompson CJ
J Clin Endocrinol Metab 2022 Sep 28;107(10):2701-2715. doi: 10.1210/clinem/dgac381. PMID: 35771962Free PMC Article
McGinley MP, Goldschmidt CH, Rae-Grant AD
JAMA 2021 Feb 23;325(8):765-779. doi: 10.1001/jama.2020.26858. PMID: 33620411
Atri A
Med Clin North Am 2019 Mar;103(2):263-293. doi: 10.1016/j.mcna.2018.10.009. PMID: 30704681

Recent clinical studies

Etiology

Genovese A, Butler MG
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030677. PMID: 36980949Free PMC Article
Amaro D, Carreño E, Steeples LR, Oliveira-Ramos F, Marques-Neves C, Leal I
Br J Ophthalmol 2020 Jun;104(6):742-747. Epub 2019 Nov 12 doi: 10.1136/bjophthalmol-2019-314926. PMID: 31719109
Lambeck J, Hieber M, Dreßing A, Niesen WD
Dtsch Arztebl Int 2019 Sep 2;116(35-36):600-606. doi: 10.3238/arztebl.2019.0600. PMID: 31587708Free PMC Article
Fuchs O, Bahmer T, Rabe KF, von Mutius E
Lancet Respir Med 2017 Mar;5(3):224-234. Epub 2016 Sep 22 doi: 10.1016/S2213-2600(16)30187-4. PMID: 27666650
Inouye SK, Studenski S, Tinetti ME, Kuchel GA
J Am Geriatr Soc 2007 May;55(5):780-91. doi: 10.1111/j.1532-5415.2007.01156.x. PMID: 17493201Free PMC Article

Diagnosis

Genovese A, Butler MG
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030677. PMID: 36980949Free PMC Article
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y
Brain Dev 2021 Jan;43(1):2-31. Epub 2020 Aug 20 doi: 10.1016/j.braindev.2020.08.001. PMID: 32829972
Amaro D, Carreño E, Steeples LR, Oliveira-Ramos F, Marques-Neves C, Leal I
Br J Ophthalmol 2020 Jun;104(6):742-747. Epub 2019 Nov 12 doi: 10.1136/bjophthalmol-2019-314926. PMID: 31719109
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Sahrmann S, Azevedo DC, Dillen LV
Braz J Phys Ther 2017 Nov-Dec;21(6):391-399. Epub 2017 Sep 27 doi: 10.1016/j.bjpt.2017.08.001. PMID: 29097026Free PMC Article

Therapy

Cottin V, Selman M, Inoue Y, Wong AW, Corte TJ, Flaherty KR, Han MK, Jacob J, Johannson KA, Kitaichi M, Lee JS, Agusti A, Antoniou KM, Bianchi P, Caro F, Florenzano M, Galvin L, Iwasawa T, Martinez FJ, Morgan RL, Myers JL, Nicholson AG, Occhipinti M, Poletti V, Salisbury ML, Sin DD, Sverzellati N, Tonia T, Valenzuela C, Ryerson CJ, Wells AU
Am J Respir Crit Care Med 2022 Aug 15;206(4):e7-e41. doi: 10.1164/rccm.202206-1041ST. PMID: 35969190Free PMC Article
Akbarialiabad H, Taghrir MH, Abdollahi A, Ghahramani N, Kumar M, Paydar S, Razani B, Mwangi J, Asadi-Pooya AA, Malekmakan L, Bastani B
Infection 2021 Dec;49(6):1163-1186. Epub 2021 Jul 28 doi: 10.1007/s15010-021-01666-x. PMID: 34319569Free PMC Article
Nguyen TH, Chokshi RV
Curr Gastroenterol Rep 2020 Aug 4;22(10):48. doi: 10.1007/s11894-020-00785-z. PMID: 32749603Free PMC Article
Sahrmann S, Azevedo DC, Dillen LV
Braz J Phys Ther 2017 Nov-Dec;21(6):391-399. Epub 2017 Sep 27 doi: 10.1016/j.bjpt.2017.08.001. PMID: 29097026Free PMC Article
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Prognosis

Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544Free PMC Article
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y
Brain Dev 2021 Jan;43(1):2-31. Epub 2020 Aug 20 doi: 10.1016/j.braindev.2020.08.001. PMID: 32829972
Lambeck J, Hieber M, Dreßing A, Niesen WD
Dtsch Arztebl Int 2019 Sep 2;116(35-36):600-606. doi: 10.3238/arztebl.2019.0600. PMID: 31587708Free PMC Article
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Binks A, Nolan JP
Minerva Anestesiol 2010 May;76(5):362-8. PMID: 20395899

Clinical prediction guides

Genovese A, Butler MG
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030677. PMID: 36980949Free PMC Article
Nguyen TH, Chokshi RV
Curr Gastroenterol Rep 2020 Aug 4;22(10):48. doi: 10.1007/s11894-020-00785-z. PMID: 32749603Free PMC Article
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Magnuson A, Sattar S, Nightingale G, Saracino R, Skonecki E, Trevino KM
Am Soc Clin Oncol Educ Book 2019 Jan;39:e96-e109. Epub 2019 May 17 doi: 10.1200/EDBK_237641. PMID: 31099668
Endicott J, Nee J, Harrison W
Arch Womens Ment Health 2006 Jan;9(1):41-9. Epub 2005 Sep 20 doi: 10.1007/s00737-005-0103-y. PMID: 16172836

Recent systematic reviews

Fugazzaro S, Contri A, Esseroukh O, Kaleci S, Croci S, Massari M, Facciolongo NC, Besutti G, Iori M, Salvarani C, Costi S; Reggio Emilia COVID-19 Working Group
Int J Environ Res Public Health 2022 Apr 24;19(9) doi: 10.3390/ijerph19095185. PMID: 35564579Free PMC Article
Gil Martínez V, Avedillo Salas A, Santander Ballestín S
Nutrients 2022 Feb 28;14(5) doi: 10.3390/nu14051033. PMID: 35268010Free PMC Article
Ceban F, Ling S, Lui LMW, Lee Y, Gill H, Teopiz KM, Rodrigues NB, Subramaniapillai M, Di Vincenzo JD, Cao B, Lin K, Mansur RB, Ho RC, Rosenblat JD, Miskowiak KW, Vinberg M, Maletic V, McIntyre RS
Brain Behav Immun 2022 Mar;101:93-135. Epub 2021 Dec 29 doi: 10.1016/j.bbi.2021.12.020. PMID: 34973396Free PMC Article
Bravata DM, Watts SA, Keefer AL, Madhusudhan DK, Taylor KT, Clark DM, Nelson RS, Cokley KO, Hagg HK
J Gen Intern Med 2020 Apr;35(4):1252-1275. Epub 2019 Dec 17 doi: 10.1007/s11606-019-05364-1. PMID: 31848865Free PMC Article
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...