| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
11311002 |
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K. Clin Dysmorphol. 2001;10(2):87-93. |
| Smooth philtrum Micrognathia | ||
| rs281875333 | ||
| Bone and Bones Brain Developmental Disabilities Epilepsy Homo sapiens Hydronephrosis Macrostomia Male | ||
| 2 (64.6%) |
21910233 |
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC. Am J Med Genet A. 2011;155A(10):2465-8. |
| Macrocephaly Long philtrum Broad thumb | ||
| Child Developmental Disabilities Females Genes, Recessive Homo sapiens Infant Intellectual Disability Macrostomia | ||
| 3 (63.4%) |
6655673 |
Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). Al-Awadi SA, Farag TI, Naguib K, Teebi A, Cuschieri A, Al-Othman S, Sundareshan TS. J Med Genet. 1983;20(6):464-5. |
| Microcephaly Micrognathia Overlapping fingers | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, 1-3 Females Homo sapiens | ||
| 4 (59.0%) |
10678657 |
Cri du chat syndrome: changing phenotype in older patients. Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Am J Med Genet. 2000;90(3):203-15. |
| Long face Micrognathia | ||
| Adult Chromosome Mapping Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Facies Females Genotype Homo sapiens Male Middle Aged Phenotype | ||
| 5 (57.8%) |
8669439 |
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Johnson JP, Poskanzer LS, Sherman S. Am J Med Genet. 1996;61(2):134-9. |
| Micrognathia | ||
| Adult Child Dermoid Cyst Females Goldenhar Syndrome Homo sapiens Infant Infant, Newborn Male Middle Aged Syndrome | ||
| 5 (57.8%) |
2650550 |
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG. Am J Med Genet. 1989;32(1):93-9. |
| Microretrognathia | ||
| Facial Expression Females Genes, Recessive Homo sapiens Infant, Newborn Intellectual Disability Limb Deformities, Congenital Male Syndrome Ultrasonography | ||
| 7 (49.1%) |
8489799 |
Mental retardation, macrostomia and hyperpnoea syndrome. Singh HA. J Paediatr Child Health. 1993;29(2):156-7. |
| Wide mouth Clubbing | ||
| Apnea Face Follow-Up Studies Homo sapiens Hyperventilation Infant Intellectual Disability Macrostomia Male Syndrome | ||
| 8 (47.5%) |
11311001 |
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. Guion-Almeida ML, Richieri-Costa A. Clin Dysmorphol. 2001;10(2):81-6. |
| Brachycephaly Long philtrum | ||
| ALX3 | ||
| Child Differential Diagnosis Homo sapiens Intellectual Disability Macrostomia Male Nose Phenotype | ||
| 9 (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 | ||
| 10 (44.7%) |
10649800 |
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. Clin Dysmorphol. 2000;9(1):59-60. |
| Brachycephaly Depressed nasal tip Ectropion | ||
| ALX3 | ||
| Brain Child, Preschool Females Homo sapiens Intellectual Disability Macrostomia Nose |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 74
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000316 | Hypertelorism | 11 |
| HP:0000656 | Ectropion | 5 |
| HP:0000998 | Hypertrichosis | 5 |
| HP:0001582 | Redundant skin | 5 |
| HP:0000414 | Bulbous nose | 4 |
| HP:0000248 | Brachycephaly | 3 |
| HP:0000319 | Smooth philtrum | 3 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000463 | Anteverted nares | 3 |
| HP:0002557 | Hypoplastic nipples | 3 |
| HP:0000062 | Ambiguous genitalia | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000369 | Low-set ears | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0002617 | Dilatation | 2 |
| HP:0004554 | Generalized hypertrichosis | 2 |
| HP:0011224 | Ablepharon | 2 |
| HP:0025356 | Psychomotor retardation | 2 |
| HP:0410030 | Cleft lip | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000154 | Wide mouth | 1 |
| HP:0000194 | Open mouth | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000276 | Long face | 1 |
| HP:0000308 | Microretrognathia | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000349 | Widow's peak | 1 |
| HP:0000358 | Posteriorly rotated ears | 1 |
| HP:0000384 | Preauricular skin tag | 1 |
| HP:0000437 | Depressed nasal tip | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000544 | External ophthalmoplegia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000687 | Widely spaced teeth | 1 |
| HP:0000811 | Abnormal external genitalia | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001344 | Absent speech | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0002162 | Low posterior hairline | 1 |
| HP:0002223 | Absent eyebrow | 1 |
| HP:0002292 | Frontal balding | 1 |
| HP:0002298 | Absent hair | 1 |
| HP:0002410 | Aqueductal stenosis | 1 |
| HP:0002558 | Supernumerary nipple | 1 |
| HP:0002561 | Absent nipple | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004540 | Congenital, generalized hypertrichosis | 1 |
| HP:0004768 | Sparse anterior scalp hair | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0005484 | Postnatal microcephaly | 1 |
| HP:0010055 | Broad hallux | 1 |
| HP:0010294 | Palate fistula | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010761 | Broad columella | 1 |
| HP:0012368 | Flat face | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |