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Seckel syndrome 4(SCKL4)

MedGen UID:: 854819
•Concept ID:: C3888212
•: Disease or Syndrome

Synonym:	SCKL4

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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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.

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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.

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Retrognathia

MedGen UID:: 19766
•Concept ID:: C0035353
•: Congenital Abnormality

An abnormality in which the mandible is mislocalised posteriorly.

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11 pairs of ribs

MedGen UID:: 326950
•Concept ID:: C1839731
•: Finding

Presence of only 11 pairs of ribs.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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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.

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Abnormality of head or neck
- High forehead
- Underdeveloped nasal alae
Abnormality of limbs
- Steep acetabular roof
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Intellectual disability, mild
Ear malformation
- Low-set ears
Growth abnormality

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

See all (4)

Recent clinical studies

Etiology

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: 28832566 Free 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

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

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

See all (8)

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

Seckel syndrome and moyamoya.

Codd PJ, Scott RM, Smith ER
J Neurosurg Pediatr 2009 Apr;3(4):320-4. doi: 10.3171/2008.12.PEDS08205. PMID: 19338412

Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.

Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG
Am J Med Genet 1997 Oct 31;72(3):281-5. PMID: 9332654

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

Seckel's syndrome.

Shankar V, Kejriwal NL
J Indian Med Assoc 1986 Apr;84(4):122-3. PMID: 3772126

See all (19)

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

See all (3)

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

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

See all (3)

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

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

Ocular manifestations of Seckel syndrome.

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

See all (8)

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Seckel syndrome 4(SCKL4)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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