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Craniosynostosis and dental anomalies(CRSDA)

MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
Synonyms: CRSDA; KREIBORG-PAKISTANI SYNDROME
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IL11RA (9p13.3)
OMIM®: 614188
Orphanet: ORPHA284149

Definition

This autosomal recessive disorder is characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011). [from OMIM]

Clinical features

Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Papilledema
MedGen UID:
10565
Concept ID:
C0030353
Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Turricephaly
MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality
Premature closing of the lambdoid and coronal sutures.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Trigonocephaly
MedGen UID:
82713
Concept ID:
C0265535
Congenital Abnormality
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Congenital Abnormality
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Finding
Premature closure of the coronal suture of skull.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Turricephaly
MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality
Premature closing of the lambdoid and coronal sutures.
Teeth, supernumerary
MedGen UID:
21210
Concept ID:
C0040457
Congenital Abnormality
An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Trigonocephaly
MedGen UID:
82713
Concept ID:
C0265535
Congenital Abnormality
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Congenital Abnormality
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Finding
Premature closure of the coronal suture of skull.
Fingernail dysplasia
MedGen UID:
866606
Concept ID:
C4020952
Disease or Syndrome
An abnormality of the development of the fingernails.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniosynostosis and dental anomalies
Follow this link to review classifications for Craniosynostosis and dental anomalies in Orphanet.

Recent clinical studies

Etiology

Lebuis A, Bortoluzzi P, Huynh N, Bach N
J Craniofac Surg 2015 Sep;26(6):1893-9. doi: 10.1097/SCS.0000000000002018. PMID: 26355976
Singh VP, Moss TP
Prog Orthod 2015;16:5. Epub 2015 Apr 18 doi: 10.1186/s40510-015-0078-9. [Epub ahead of print] PMID: 26061983Free PMC Article
Agochukwu NB, Solomon BD, Doherty ES, Muenke M
J Craniofac Surg 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. PMID: 22565872Free PMC Article
Vargervik K, Rubin MS, Grayson BH, Figueroa AA, Kreiborg S, Shirley JC, Simmons KE, Warren SM
Am J Orthod Dentofacial Orthop 2012 Apr;141(4 Suppl):S68-73. doi: 10.1016/j.ajodo.2011.12.013. PMID: 22449601
Vilan Xavier AC, Pinto Silva LC, Oliveira P, Villamarim Soares R, de Almeida Cruz R
Spec Care Dentist 2008 May-Jun;28(3):96-100. doi: 10.1111/j.1754-4505.2008.00019.x. PMID: 18489656

Diagnosis

Khonsari RH, Delezoide AL, Kang W, Hébert JM, Bessières B, Bodiguel V, Collet C, Legeai-Mallet L, Sharpe PT, Fallet-Bianco C
Am J Med Genet A 2012 Nov;158A(11):2797-806. Epub 2012 Sep 17 doi: 10.1002/ajmg.a.35598. [Epub ahead of print] PMID: 22987770
Costello BJ, Edwards SP
Oral Maxillofac Surg Clin North Am 2010 Feb;22(1):5-15. doi: 10.1016/j.coms.2009.10.003. PMID: 20159474
D'Alessandro G, Faggella A, Piana G
Minerva Stomatol 2009 Oct;58(10):539-46. PMID: 19893477
Ajike SO, Adeosun OO, Adebayo ET, Anyiam JO, Jalo I, Chom ND
Niger J Clin Pract 2008 Mar;11(1):77-80. PMID: 18689146
Cohen SR, Cho DC, Nichols SL, Simms C, Cross KP, Burstein FD
Plast Reconstr Surg 2004 Sep 15;114(4):841-7; discussion 848-9. PMID: 15468388

Therapy

Tsukamoto M, Yokoyama T
Anesth Prog 2015 Fall;62(3):122-4. doi: 10.2344/0003-3006-62.3.122. PMID: 26398130Free PMC Article
Lebuis A, Bortoluzzi P, Huynh N, Bach N
J Craniofac Surg 2015 Sep;26(6):1893-9. doi: 10.1097/SCS.0000000000002018. PMID: 26355976
Adolphs N, Klein M, Haberl EJ, Graul-Neumann L, Menneking H, Hoffmeister B
J Craniomaxillofac Surg 2011 Dec;39(8):554-61. Epub 2011 Jan 8 doi: 10.1016/j.jcms.2010.11.016. [Epub ahead of print] PMID: 21216154
Sant'Anna EF, de A Cury-Saramago A, Figueroa AA, Polley JW
Cleft Palate Craniofac J 2010 Mar;47(2):109-15. doi: 10.1597/08-191.1. PMID: 20210632
Spolyar JL, Vasileff W, MacIntosh RB
Cleft Palate Craniofac J 1993 Nov;30(6):528-39; discussion 539-41. doi: 10.1597/1545-1569(1993)030<0528:ICCAID>2.3.CO;2. PMID: 8280730

Prognosis

Lebuis A, Bortoluzzi P, Huynh N, Bach N
J Craniofac Surg 2015 Sep;26(6):1893-9. doi: 10.1097/SCS.0000000000002018. PMID: 26355976
Saltaji H, Altalibi M, Major MP, Al-Nuaimi MH, Tabbaa S, Major PW, Flores-Mir C
J Oral Maxillofac Surg 2014 May;72(5):959-72. Epub 2013 Oct 9 doi: 10.1016/j.joms.2013.09.039. [Epub ahead of print] PMID: 24280172
Agochukwu NB, Solomon BD, Doherty ES, Muenke M
J Craniofac Surg 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. PMID: 22565872Free PMC Article
Ajike SO, Adeosun OO, Adebayo ET, Anyiam JO, Jalo I, Chom ND
Niger J Clin Pract 2008 Mar;11(1):77-80. PMID: 18689146
Cohen SR, Cho DC, Nichols SL, Simms C, Cross KP, Burstein FD
Plast Reconstr Surg 2004 Sep 15;114(4):841-7; discussion 848-9. PMID: 15468388

Clinical prediction guides

Singh VP, Moss TP
Prog Orthod 2015;16:5. Epub 2015 Apr 18 doi: 10.1186/s40510-015-0078-9. [Epub ahead of print] PMID: 26061983Free PMC Article
Khonsari RH, Delezoide AL, Kang W, Hébert JM, Bessières B, Bodiguel V, Collet C, Legeai-Mallet L, Sharpe PT, Fallet-Bianco C
Am J Med Genet A 2012 Nov;158A(11):2797-806. Epub 2012 Sep 17 doi: 10.1002/ajmg.a.35598. [Epub ahead of print] PMID: 22987770
Vargervik K, Rubin MS, Grayson BH, Figueroa AA, Kreiborg S, Shirley JC, Simmons KE, Warren SM
Am J Orthod Dentofacial Orthop 2012 Apr;141(4 Suppl):S68-73. doi: 10.1016/j.ajodo.2011.12.013. PMID: 22449601
Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO
Dev Dyn 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790. PMID: 19086028
Mustafa D, Lucas VS, Junod P, Evans R, Mason C, Roberts GJ
Cleft Palate Craniofac J 2001 Nov;38(6):629-35. doi: 10.1597/1545-1569(2001)038<0629:TDHACR>2.0.CO;2. PMID: 11681997

Recent systematic reviews

Saltaji H, Altalibi M, Major MP, Al-Nuaimi MH, Tabbaa S, Major PW, Flores-Mir C
J Oral Maxillofac Surg 2014 May;72(5):959-72. Epub 2013 Oct 9 doi: 10.1016/j.joms.2013.09.039. [Epub ahead of print] PMID: 24280172
Vargervik K, Rubin MS, Grayson BH, Figueroa AA, Kreiborg S, Shirley JC, Simmons KE, Warren SM
Am J Orthod Dentofacial Orthop 2012 Apr;141(4 Suppl):S68-73. doi: 10.1016/j.ajodo.2011.12.013. PMID: 22449601

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