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Hypoplastic frontal sinuses

MedGen UID:
349225
Concept ID:
C1859682
Finding
Synonym: Underdeveloped frontal sinuses
 
HPO: HP:0002738

Definition

Underdevelopment of frontal sinus. [from HPO]

Conditions with this feature

Cleidocranial dysostosis
MedGen UID:
3486
Concept ID:
C0008928
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.
Pyle metaphyseal dysplasia
MedGen UID:
82704
Concept ID:
C0265294
Disease or Syndrome
Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).
Aspartylglucosaminuria
MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
Mulibrey nanism syndrome
MedGen UID:
99347
Concept ID:
C0524582
Disease or Syndrome
Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
X-linked intellectual disability-craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.

Professional guidelines

PubMed

Ramadan HH
Ann Otol Rhinol Laryngol 2009 Mar;118(3):161-5. doi: 10.1177/000348940911800301. PMID: 19374145

Recent clinical studies

Etiology

Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ
Am J Rhinol Allergy 2021 Jan;35(1):72-76. Epub 2020 Jun 19 doi: 10.1177/1945892420933175. PMID: 32551925Free PMC Article
Buller J, Maus V, Grandoch A, Kreppel M, Zirk M, Zöller JE
J Oral Maxillofac Surg 2018 Oct;76(10):2168.e1-2168.e7. Epub 2018 Jun 22 doi: 10.1016/j.joms.2018.06.020. PMID: 30009786
Ozcan KM, Hizli O, Sarisoy ZA, Ulusoy H, Yildirim G
Eur Arch Otorhinolaryngol 2018 Apr;275(4):931-935. Epub 2018 Feb 7 doi: 10.1007/s00405-018-4892-9. PMID: 29417280
Zhang Z, Sun X, Wang C, Wang G, Zhao B
J Comput Assist Tomogr 2016 Jan-Feb;40(1):39-42. doi: 10.1097/RCT.0000000000000334. PMID: 26571055
Lee D, Brody R, Har-El G
Am J Rhinol 1997 Jul-Aug;11(4):283-5. doi: 10.2500/105065897781446720. PMID: 9292179

Diagnosis

Ozcan KM, Hizli O, Sarisoy ZA, Ulusoy H, Yildirim G
Eur Arch Otorhinolaryngol 2018 Apr;275(4):931-935. Epub 2018 Feb 7 doi: 10.1007/s00405-018-4892-9. PMID: 29417280
Zhang Z, Sun X, Wang C, Wang G, Zhao B
J Comput Assist Tomogr 2016 Jan-Feb;40(1):39-42. doi: 10.1097/RCT.0000000000000334. PMID: 26571055
Pifferi M, Bush A, Caramella D, Di Cicco M, Zangani M, Chinellato I, Macchia P, Boner AL
Eur Respir J 2011 Mar;37(3):566-71. Epub 2010 Jul 22 doi: 10.1183/09031936.00068810. PMID: 20650983
Ramadan HH
Ann Otol Rhinol Laryngol 2009 Mar;118(3):161-5. doi: 10.1177/000348940911800301. PMID: 19374145
Woodworth BA, Ahn C, Flume PA, Schlosser RJ
Am J Rhinol 2007 Jan-Feb;21(1):122-7. doi: 10.2500/ajr.2007.21.2905. PMID: 17283574

Prognosis

Buller J, Maus V, Grandoch A, Kreppel M, Zirk M, Zöller JE
J Oral Maxillofac Surg 2018 Oct;76(10):2168.e1-2168.e7. Epub 2018 Jun 22 doi: 10.1016/j.joms.2018.06.020. PMID: 30009786
Ozcan KM, Hizli O, Sarisoy ZA, Ulusoy H, Yildirim G
Eur Arch Otorhinolaryngol 2018 Apr;275(4):931-935. Epub 2018 Feb 7 doi: 10.1007/s00405-018-4892-9. PMID: 29417280
Woodworth BA, Ahn C, Flume PA, Schlosser RJ
Am J Rhinol 2007 Jan-Feb;21(1):122-7. doi: 10.2500/ajr.2007.21.2905. PMID: 17283574
Rakheja D, Wilson GN, Rogers BB
Pediatr Dev Pathol 2003 May-Jun;6(3):270-7. Epub 2003 Apr 30 doi: 10.1007/s10024-002-1116-4. PMID: 12717589

Clinical prediction guides

Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ
Am J Rhinol Allergy 2021 Jan;35(1):72-76. Epub 2020 Jun 19 doi: 10.1177/1945892420933175. PMID: 32551925Free PMC Article
Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF
Mol Vis 2012;18:1449-56. Epub 2012 Jun 2 PMID: 22736936Free PMC Article
Pifferi M, Bush A, Caramella D, Di Cicco M, Zangani M, Chinellato I, Macchia P, Boner AL
Eur Respir J 2011 Mar;37(3):566-71. Epub 2010 Jul 22 doi: 10.1183/09031936.00068810. PMID: 20650983
Orlandi RR, Wiggins RH 3rd
Am J Rhinol Allergy 2009 May-Jun;23(3):307-11. doi: 10.2500/ajra.2009.23.3324. PMID: 19490807
Ramadan HH
Ann Otol Rhinol Laryngol 2009 Mar;118(3):161-5. doi: 10.1177/000348940911800301. PMID: 19374145

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