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Short stature, Dauber-Argente type(SSDA)

MedGen UID:
1794178
Concept ID:
C5561968
Disease or Syndrome
Synonyms: SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA
 
Gene (location): PAPPA2 (1q25.2)
 
Monarch Initiative: MONDO:0859182
OMIM®: 619489

Definition

Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 (147440) due to impaired proteolysis of IGFBP3 (146732) and IGFBP5 (146734), resulting in reduced free IGF1 (Dauber et al., 2016). [from OMIM]

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers (spider fingers).
Long fingers
MedGen UID:
346836
Concept ID:
C1858091
Finding
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Long toe
MedGen UID:
461963
Concept ID:
C3150613
Finding
Toes that appear disproportionately long compared to the foot.
Decreased fibular diameter
MedGen UID:
1383699
Concept ID:
C4476976
Finding
Reduced width of the cross sectional diameter of the fibula.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
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.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Increased insulin like growth factor binding protein acid labile subunit concentration
MedGen UID:
1814347
Concept ID:
C5676778
Finding
An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Short chin
MedGen UID:
784514
Concept ID:
C3697248
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Fasting hyperinsulinemia
MedGen UID:
351259
Concept ID:
C1864954
Finding
An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.

Professional guidelines

PubMed

Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Recent clinical studies

Etiology

Singh P, Singh AD, Ahuja V, Makharia GK
World J Gastroenterol 2022 Aug 28;28(32):4493-4507. doi: 10.3748/wjg.v28.i32.4493. PMID: 36157923Free PMC Article
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J
Lancet 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. PMID: 32891212
Turner AM
J Paediatr Child Health 2014 Oct;50(10):E14-20. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2010.01970.x. PMID: 21771153

Diagnosis

Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Horm Res Paediatr 2020;93(3):182-196. Epub 2020 Aug 5 doi: 10.1159/000508985. PMID: 32756064Free PMC Article
Pauli RM
Orphanet J Rare Dis 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. PMID: 30606190Free PMC Article
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M
Best Pract Res Clin Rheumatol 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. PMID: 18328977

Therapy

Duggan S
Drugs 2021 Nov;81(17):2057-2062. doi: 10.1007/s40265-021-01623-w. PMID: 34694597
Wrobel W, Pach E, Ben-Skowronek I
Int J Mol Sci 2021 May 25;22(11) doi: 10.3390/ijms22115573. PMID: 34070375Free PMC Article
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Horton WA, Hall JG, Hecht JT
Lancet 2007 Jul 14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3. PMID: 17630040

Prognosis

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Turner AM
J Paediatr Child Health 2014 Oct;50(10):E14-20. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2010.01970.x. PMID: 21771153
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Clinical prediction guides

Chan ML, Qi Y, Larimore K, Cherukuri A, Seid L, Jayaram K, Jeha G, Fisheleva E, Day J, Huntsman-Labed A, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Horton WA, Henshaw J
Clin Pharmacokinet 2022 Feb;61(2):263-280. Epub 2021 Aug 25 doi: 10.1007/s40262-021-01059-1. PMID: 34431071Free PMC Article
Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS
Genet Med 2021 Dec;23(12):2443-2447. Epub 2021 Aug 2 doi: 10.1038/s41436-021-01287-7. PMID: 34341520Free PMC Article
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S
PLoS One 2020;15(7):e0235655. Epub 2020 Jul 6 doi: 10.1371/journal.pone.0235655. PMID: 32628740Free PMC Article
Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR
Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824

Recent systematic reviews

Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF
J Clin Endocrinol Metab 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. PMID: 36916904Free PMC Article
Byvaltsev VA, Kalinin AA, Hernandez PA, Shepelev VV, Pestryakov YY, Aliyev MA, Giers MB
Int J Mol Sci 2022 Nov 3;23(21) doi: 10.3390/ijms232113479. PMID: 36362274Free PMC Article
Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z
J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286
Ngim CF, Lai NM, Hong JY, Tan SL, Ramadas A, Muthukumarasamy P, Thong MK
Cochrane Database Syst Rev 2017 Sep 18;9(9):CD012284. doi: 10.1002/14651858.CD012284.pub2. PMID: 28921500Free PMC Article
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292

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