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Seckel syndrome 4(SCKL4)

MedGen UID:
854819
Concept ID:
C3888212
Disease or Syndrome
Synonym: SCKL4
 
Gene (location): CENPJ (13q12.12-12.13)
 
Monarch Initiative: MONDO:0013358
OMIM®: 613676

Definition

Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002). For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. [from OMIM]

Clinical features

From HPO
Steep acetabular roof
MedGen UID:
462281
Concept ID:
C3150931
Finding
An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.
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.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Severe failure to thrive
MedGen UID:
343373
Concept ID:
C1855514
Finding
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.

Professional guidelines

PubMed

Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854

Recent clinical studies

Etiology

Mitchell DA, Seckel MA
AACN Adv Crit Care 2018 Winter;29(4):415-425. doi: 10.4037/aacnacc2018161. PMID: 30523012
Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E
Eur J Hum Genet 2017 Oct;25(10):1118-1125. Epub 2017 Aug 23 doi: 10.1038/ejhg.2017.120. PMID: 28832566Free PMC Article
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V
Am J Med Genet 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. PMID: 12376940
Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y
J Clin Endocrinol Metab 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. PMID: 11701730
Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E
Am J Med Genet 1997 Sep 5;71(4):479-85. PMID: 9286460

Diagnosis

Tabib A, Richmond CM, McGaughran J
Am J Med Genet A 2023 Apr;191(4):1094-1100. Epub 2023 Jan 9 doi: 10.1002/ajmg.a.63110. PMID: 36622817
Codd PJ, Scott RM, Smith ER
J Neurosurg Pediatr 2009 Apr;3(4):320-4. doi: 10.3171/2008.12.PEDS08205. PMID: 19338412
Guirgis MF, Lam BL, Howard CW
Am J Ophthalmol 2001 Oct;132(4):596-7. doi: 10.1016/s0002-9394(01)01046-7. PMID: 11589896
Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E
Am J Med Genet 1997 Sep 5;71(4):479-85. PMID: 9286460
Shankar V, Kejriwal NL
J Indian Med Assoc 1986 Apr;84(4):122-3. PMID: 3772126

Therapy

Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854
Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y
J Clin Endocrinol Metab 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. PMID: 11701730

Prognosis

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Sorof JM, Dow-Smith C, Moore PJ
Pediatr Nephrol 1999 May;13(4):343-6. doi: 10.1007/s004670050623. PMID: 10454788

Clinical prediction guides

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T
Cleft Palate Craniofac J 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2. PMID: 11681999
Guirgis MF, Lam BL, Howard CW
Am J Ophthalmol 2001 Oct;132(4):596-7. doi: 10.1016/s0002-9394(01)01046-7. PMID: 11589896

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