Syngnathia multiple anomalies

MedGen UID:: 1678646
•Concept ID:: C5190737
•: Disease or Syndrome

Synonym:	Syngnathia, multiple anomalies syndrome
SNOMED CT:	Syngnathia, multiple anomalies syndrome (782940006); Dobrow syndrome (782940006)

Monarch Initiative:	MONDO:0017980
Orphanet:	ORPHA3262

Definition

A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSyngnathia multiple anomalies

Dysostosis with predominant craniofacial involvement
- Syngnathia multiple anomalies

Recent clinical studies

Etiology

Congenital bony syngnathia: a proposed classification.

Dawson KH, Gruss JS, Myall RW
Cleft Palate Craniofac J 1997 Mar;34(2):141-6. doi: 10.1597/1545-1569_1997_034_0141_cbsapc_2.3.co_2. PMID: 9138509

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Diagnosis

Popliteal Pterygium Syndrome With Syngnathia.

Sisti A, Freda N, Giacomina A, Gatti GL
J Craniofac Surg 2017 May;28(3):e250-e251. doi: 10.1097/SCS.0000000000003473. PMID: 28468208

Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest.

Wang XQ, Zhang WF, Wang YG, Bu LL, Hou M
J Craniofac Surg 2016 Nov;27(8):e762-e763. doi: 10.1097/SCS.0000000000003115. PMID: 28005814

Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.

Mahgoub L, Joynt C, Bhargava R, Davies D, El-Hakim H, Dobrovolsky W
Cleft Palate Craniofac J 2015 Nov;52(6):e201-4. Epub 2014 Oct 17 doi: 10.1597/14-069. PMID: 25325328

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.

Posey JE, Dariya V, Edmonds JL, Lee EI, Probst FJ, Premkumar MH
Eur J Pediatr 2014 Dec;173(12):1741-4. Epub 2014 Nov 12 doi: 10.1007/s00431-014-2453-9. PMID: 25388409 Free PMC Article

Congenital maxillomandibular syngnathia: case report.

Parkins GE, Boamah MO
J Craniomaxillofac Surg 2009 Jul;37(5):276-8. Epub 2009 Feb 23 doi: 10.1016/j.jcms.2009.01.001. PMID: 19231229

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Prognosis

Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.

Mahgoub L, Joynt C, Bhargava R, Davies D, El-Hakim H, Dobrovolsky W
Cleft Palate Craniofac J 2015 Nov;52(6):e201-4. Epub 2014 Oct 17 doi: 10.1597/14-069. PMID: 25325328

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.

Posey JE, Dariya V, Edmonds JL, Lee EI, Probst FJ, Premkumar MH
Eur J Pediatr 2014 Dec;173(12):1741-4. Epub 2014 Nov 12 doi: 10.1007/s00431-014-2453-9. PMID: 25388409 Free PMC Article

Congenital bilateral fusion of the maxillomandibular alveolar processes with craniosynostosis: report of a rare case.

Ajike SO, Adeosun OO, Adebayo ET, Anyiam JO, Jalo I, Chom ND
Niger J Clin Pract 2008 Mar;11(1):77-80. PMID: 18689146

Congenital bony syngnathia: a proposed classification.

Dawson KH, Gruss JS, Myall RW
Cleft Palate Craniofac J 1997 Mar;34(2):141-6. doi: 10.1597/1545-1569_1997_034_0141_cbsapc_2.3.co_2. PMID: 9138509

Syngnathia: a report of two cases.

Valnicek SM, Clarke HM
Cleft Palate Craniofac J 1993 Nov;30(6):582-5. doi: 10.1597/1545-1569_1993_030_0582_sarotc_2.3.co_2. PMID: 8280738

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