| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.5%) |
29538102 |
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, Nevens T, Mombaerts I. Cornea. 2018;37(7):929-932. |
| Ablepharon Camptodactyly | ||
| Cornea Eye Abnormalities Homo sapiens Infant, Newborn Macrostomia Male Ophthalmologic Surgical Procedures Surgical Flaps | ||
| 2 (36.0%) |
30450715 |
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Am J Med Genet A. 2018;176(12):2777-2780. |
| Hypertelorism Ablepharon | ||
| TWIST1 TWIST2 | ||
| c|SUB|C|351,117|G,E,D p|SUB|E|117|D | ||
| Alleles Amino Acid Substitution Craniosynostosis Eye Abnormalities Facies Genetic Association Studies Genetic Predisposition to Disease Genotype Homo sapiens Infant, Newborn Male Nuclear Proteins Protein Domain Syndrome Tomography, Spiral Computed Twist-Related Protein 1 | ||
| 2 (36.0%) |
23198177 (3504267) |
Clinical variant of ablepharon macrostomia syndrome. Larumbe J, Villalta P, Velez I. Case Rep Dermatol Med. 2011;2011:593045. |
| Abnormality of the face Ablepharon | ||
| 2 (36.0%) |
19760652 |
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. Am J Med Genet A. 2009;149A(10):2236-40. |
| Conductive hearing impairment Bulbous nose Ablepharon | ||
| rs869320750 | ||
| Child Differential Diagnosis Females Homo sapiens Hypertrichosis Macrostomia Syndrome | ||
| 2 (36.0%) |
3293678 |
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. Jackson IT, Shaw KE, del Pinal Matorras F. Br J Plast Surg. 1988;41(4):410-6. |
| Ambiguous genitalia Ablepharon | ||
| Child Homo sapiens Macrostomia Male Syndrome | ||
| 6 (30.8%) |
9674915 |
Barber-Say Syndrome: report of a new case. Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. Am J Med Genet. 1998;78(2):188-91. |
| Bulbous nose Ectropion | ||
| rs1553565143 | ||
| Breast Child Face Females Homo sapiens Language Development Disorders Psychomotor Disorders Syndrome Verbal Learning | ||
| 7 (29.4%) |
15103726 |
Ablepharon-macrostomia syndrome in a 46-year-old woman. Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Am J Med Genet A. 2004;127A(1):96-8. |
| Redundant skin Absent eyebrow | ||
| rs1553565140 | ||
| Congenital Hand Deformities Eye Abnormalities Face Facies Females Homo sapiens Macrostomia Middle Aged Syndrome | ||
| 8 (27.8%) |
2036354 |
Ablepharon macrostomia syndrome. Price NJ, Pugh RE, Farndon PA, Willshaw HE. Br J Ophthalmol. 1991;75(5):317-9. |
| Wide mouth | ||
| rs1553565140 | ||
| Homo sapiens Infant, Newborn Macrostomia Male Surgical Flaps Syndrome Vision Disorders | ||
| 9 (21.2%) |
21595001 |
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. Rohena L, Kuehn D, Marchegiani S, Higginson JD. Am J Med Genet A. 2011;155A(4):850-4. |
| Hypertelorism Camptodactyly | ||
| rs1553565140 | ||
| Eye Abnormalities Females Genes, Dominant Homo sapiens Infant, Newborn Macrostomia Male Phenotype Ultrasonography Young Adult | ||
| 10 (17.5%) |
4003491 |
Ablepharon macrostomia syndrome. Hornblass A, Reifler DM. Am J Ophthalmol. 1985;99(5):552-6. |
| Ambiguous genitalia Ventral hernia | ||
| Cornea Females Homo sapiens Infant, Newborn Macrostomia |
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000154 | Wide mouth | Very frequent (99-80%) |
| HP:0000430 | Underdeveloped nasal alae | Very frequent (99-80%) |
| HP:0000561 | Absent eyelashes | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001582 | Redundant skin | Very frequent (99-80%) |
| HP:0002213 | Fine hair | Very frequent (99-80%) |
| HP:0002223 | Absent eyebrow | Very frequent (99-80%) |
| HP:0008070 | Sparse hair | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0011224 | Ablepharon | Very frequent (99-80%) |
| HP:0000055 | Abnormality of female external genitalia | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000691 | Microdontia | Frequent (79-30%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0000963 | Thin skin | Frequent (79-30%) |
| HP:0001126 | Cryptophthalmos | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0003187 | Breast hypoplasia | Frequent (79-30%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Frequent (79-30%) |
| HP:0007392 | Excessive wrinkled skin | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000413 | Atresia of the external auditory canal | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0010720 | Abnormal hair pattern | Occasional (29-5%) |
| HP:0200020 | Corneal erosion | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001582 | Redundant skin | 3 |
| HP:0000062 | Ambiguous genitalia | 2 |
| HP:0011224 | Ablepharon | 2 |
| HP:0000154 | Wide mouth | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000656 | Ectropion | 1 |
| HP:0000963 | Thin skin | 1 |
| HP:0002561 | Absent nipple | 1 |
| HP:0002933 | Ventral hernia | 1 |