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Wide pubic symphysis

MedGen UID:
Concept ID:
Synonym: Wide symphysis pubis
HPO: HP:0003183


Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. [from HPO]

Conditions with this feature

Cleidocranial dysostosis
MedGen UID:
Concept ID:
Disease or Syndrome
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental anomalies without the skeletal features. Most individuals come to diagnosis because they have classic features. At birth, affected individuals typically have abnormally large, wide-open fontanelles that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include supernumerary teeth, eruption failure of the permanent teeth, and presence of the second permanent molar with the primary dentition. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. Intelligence is typically normal.
Dyggve-Melchior-Clausen syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Osteogenesis imperfecta type 13
MedGen UID:
Concept ID:
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
Fraser syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities. More variable additional findings include hypotonia, seizures, and ocular defects. Brain imaging tends to show structural defects of the corpus callosum and cerebellar hypoplasia (Duijkers et al., 2019).

Recent clinical studies


Bauman M, Marinaro J, Tawil I, Crandall C, Rosenbaum L, Paul I
J Emerg Med 2011 May;40(5):528-33. Epub 2009 Nov 17 doi: 10.1016/j.jemermed.2009.08.041. PMID: 19926435


Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO
Am J Med Genet A 2021 Aug;185(8):2488-2495. Epub 2021 May 13 doi: 10.1002/ajmg.a.62261. PMID: 33987976
Bauman M, Marinaro J, Tawil I, Crandall C, Rosenbaum L, Paul I
J Emerg Med 2011 May;40(5):528-33. Epub 2009 Nov 17 doi: 10.1016/j.jemermed.2009.08.041. PMID: 19926435
Karagüzel G, Aktürk FA, Okur E, Gümele HR, Gedik Y, Okten A
J Clin Res Pediatr Endocrinol 2010;2(3):134-6. Epub 2010 Aug 9 doi: 10.4274/jcrpe.v2i3.134. PMID: 21274329Free PMC Article
Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Philippe HJ, Rival JM
Ultrasound Obstet Gynecol 2003 Dec;22(6):648-51. doi: 10.1002/uog.916. PMID: 14689542


Kohler JE, Friedstat JS, Jacobs MA, Voelzke BB, Foy HM, Grady RW, Gruss JS, Evans HL
Hernia 2015 Aug;19(4):681-4. Epub 2014 Aug 15 doi: 10.1007/s10029-014-1294-9. PMID: 25156539Free PMC Article

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