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Seckel syndrome 4(SCKL4)

MedGen UID:
854819
•Concept ID:
C3888212
•
Disease or Syndrome
Synonym: SCKL4
 
Gene (location): CPAP (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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Severe failure to thrive
MedGen UID:
343373
•Concept ID:
C1855514
•
Finding
See: Feature record | Search on this feature
Decreased body weight
MedGen UID:
1806755
•Concept ID:
C5574742
•
Finding
Abnormally low body weight.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
11 pairs of ribs
MedGen UID:
326950
•Concept ID:
C1839731
•
Finding
Presence of only 11 pairs of ribs.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
High forehead
MedGen UID:
65991
•Concept ID:
C0239676
•
Finding
An abnormally increased height of the forehead.
See: Feature record | Search on this feature
Underdeveloped nasal alae
MedGen UID:
322332
•Concept ID:
C1834055
•
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
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
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
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

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Akalın A, Şimşek-Kiper PÖ, Taşkıran EZ, Karaosmanoğlu B, Utine GE, Boduroğlu K
Am J Med Genet A 2023 Apr;191(4):1119-1127. Epub 2023 Jan 11 doi: 10.1002/ajmg.a.63120. PMID: 36630262
Acute Respiratory Distress Syndrome and Prone Positioning.
Mitchell DA, Seckel MA
AACN Adv Crit Care 2018 Winter;29(4):415-425. doi: 10.4037/aacnacc2018161. PMID: 30523012
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
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
Clinical and genetic heterogeneity of Seckel syndrome.
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
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
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

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
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
Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome.
Aktas Z, Yuksel N, Kula S, Akman A, Hasanreisoglu B
J Glaucoma 2013 Apr-May;22(4):e3-4. doi: 10.1097/IJG.0b013e318237cadf. PMID: 22027933
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.
Brancati F, Castori M, Mingarelli R, Dallapiccola B
Am J Med Genet A 2005 Dec 15;139(3):212-5. doi: 10.1002/ajmg.a.31009. PMID: 16278902
Seckel's syndrome.
Shankar V, Kejriwal NL
J Indian Med Assoc 1986 Apr;84(4):122-3. PMID: 3772126
Visualization of the fetal face by ultrasound.
de Elejalde MM, Elejalde BR
J Craniofac Genet Dev Biol 1984;4(4):251-7. PMID: 6394608

Therapy

Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
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
IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.
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

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
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
An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
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
Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).
Sorof JM, Dow-Smith C, Moore PJ
Pediatr Nephrol 1999 May;13(4):343-6. doi: 10.1007/s004670050623. PMID: 10454788

Clinical prediction guides

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
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
An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
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
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
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
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation.
Hori A, Tamagawa K, Eber SW, Westmeier M, Hansmann I
Acta Neuropathol 1987;74(4):397-401. doi: 10.1007/BF00687219. PMID: 3687392

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