Paramedian nasal cleft

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.



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Narrow down the case reports



Total: 14 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(44.7%)
24677696
Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
Savastano CP, Bernardi P, Seuanez HN, Moreira MA, Orioli IM.
Birth Defects Res A Clin Mol Teratol. 2014;100(4):300-6.
Microcephaly Upslanted palpebral fissure
ZIC2
Brain Holoprosencephaly Homo sapiens Infant, Newborn Male Nose Nuclear Proteins
2
(41.0%)
25162542
Nasal tip surgery for cleft nose in Asians.
Sakamoto Y, Miyamoto J, Tamada I, Kishi K.
J Craniofac Surg. 2014;25(5):1671-3.
Scarring Cleft lip
Adult Asians Cephalometry Cicatrix Cleft Palate Dermatologic Surgical Procedures Females Follow-Up Studies Homo sapiens Male Middle Aged Nose Deformities, Acquired Young Adult
3
(39.0%)
12494439
Documentation of anomalies not previously described in Fryns syndrome.
Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E.
Am J Med Genet A. 2003;116A(2):179-82; discussion 183.
Microcephaly
Central Nervous System Differential Diagnosis Face Fatal Outcome Fingers Homo sapiens Infant, Newborn Male Microcephaly Nose Respiratory Diaphragm Syndrome
3
(39.0%)
6674411
[Fronto-nasal dysplasia (apropos of 4 cases)].
Fontaine G, Walbaum R, Poupard B, Bonte C, Dhellemmes P, Maquet E, Ythier H, Stevenard C.
J Genet Hum. 1983;31 Suppl 5:351-65.
Cranium bifidum occultum
Child Child, Preschool Cleft Palate Females Forehead Homo sapiens Jaw Abnormalities Male Nose Syndrome
5
(34.4%)
26538945
(4606687)
Cleft rhinoplasty.
Baskaran M, Packiaraj I, Arularasan SG, Divakar TK.
J Pharm Bioallied Sci. 2015;7(Suppl 2):S691-4.
Unilateral cleft lip
5
(34.4%)
16932184
Management of unilateral cleft lip nose deformity, with retracted ala of the noncleft side.
Koh KS, Kim EK.
Plast Reconstr Surg. 2006;118(3):723-9.
Unilateral cleft lip
Adult Congenital Abnormality Females Follow-Up Studies Homo sapiens Male Nose Nose Deformities, Acquired Postoperative Complications
7
(32.1%)
25789253
(4358053)
Post septorhinoplasty custom-made unilateral nasal stent for nasal cleft deformity.
Rathee M, Bhoria M, Boora P.
N Am J Med Sci. 2015;7(2):73-6.
Cleft lip
8
(30.8%)
438926
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation.
Roizenblatt J, Wajntal A, Diament AJ.
J Pediatr Ophthalmol Strabismus. 1979;16(1):16-20.
Telecanthus
Corneal Ulcer Craniofacial Dysostosis Face Females Hearing Loss, Bilateral Homo sapiens Infant Kidney Male Nose Pregnancy Syndrome Ureter
9
(26.3%)
3088148
Vertical transection of the alar cartilages in unilateral cleft noses.
Paulus GW, Bormioli P, Steinhauser EW.
Int J Oral Maxillofac Surg. 1986;15(3):225-32.
Thin skin Short columella
Cartilage Females Homo sapiens Male Nose
10
(17.5%)
23084001
Rotation advancement flap for isolated congenital alar rim defect: an effortless paradigm?
Gupta A, Gupta AK.
Int J Pediatr Otorhinolaryngol. 2013;77(1):144-6.
Scarring
Congenital Abnormality Follow-Up Studies Health Risk Assessment Homo sapiens Male Rare Diseases Reconstructive Surgical Procedures Surgical Flaps Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0000316 Hypertelorism 5
HP:0000252 Microcephaly 2
HP:0000506 Telecanthus 1
HP:0000528 Anophthalmia 1
HP:0000568 Microphthalmia 1
HP:0000582 Upslanted palpebral fissure 1
HP:0001321 Cerebellar hypoplasia 1
HP:0002139 Arrhinencephaly 1
HP:0004423 Cranium bifidum occultum 1
HP:0100333 Unilateral cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID