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 |
Total: 0
HPO ID | Term | Frequency |
---|
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 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|