| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.2%) |
25831115 |
Uncommon oral cleft in Wolf-Hirschhorn syndrome. Aquino SN, Machado RA, Paranaiba LM, Coletta RD, Aguiar MJ, Fernandes C, Martelli Junior H. Braz Dent J. 2015;26(2):203-6. |
| Micrognathia Downslanted palpebral fissures Cleft lip | ||
| Cleft Palate Females Homo sapiens Infant Wolf-Hirschhorn Syndrome | ||
| 2 (66.3%) |
16258951 |
Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited. Levaillant JM, Touboul C, Sinico M, Vergnaud A, Serero S, Druart L, Blondeau JR, Abd Alsamad I, Haddad B, Gerard-Blanluet M. Prenat Diagn. 2005;25(12):1150-5. |
| Microretrognathia Short philtrum | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 4 Craniofacial Abnormalities Edema Females Fetal Growth Retardation Fluorescent in Situ Hybridization Forehead Homo sapiens Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 2 (66.3%) |
15731989 |
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. Sase M, Hasegawa K, Honda R, Sumie M, Nakata M, Sugino N, Furukawa S. Am J Perinatol. 2005;22(2):99-102. |
| Microretrognathia Short philtrum | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 4 Craniofacial Abnormalities Face Females Homo sapiens Infant, Newborn Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 4 (64.7%) |
6577152 |
The oral manifestations of 4p- syndrome. Morishita M, Shiba R, Chiyo H, Furuyama J, Fujita H, Atsumi Y. J Oral Maxillofac Surg. 1983;41(9):601-5. |
| Micrognathia Cleft lip | ||
| Chromosome Aberrations Chromosomes, Human, 4-5 Cleft Palate Females Homo sapiens Infant, Newborn Micrognathism Mouth Abnormalities Syndrome | ||
| 5 (64.2%) |
15628261 |
[Wolf-Hirschhorn syndrome]. Heljic S, Catibusic F, Dozic M, Mackic M. Med Arh. 2004;58(5):318-20. |
| Hypoplastic cervical vertebrae Cleft lip | ||
| Chromosome Deletion Chromosomes, Human, Pair 4 Homo sapiens Infant Syndrome | ||
| 6 (61.1%) |
8135287 |
Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat. Qumsiyeh MB, Stevens CA. Am J Med Genet. 1993;47(3):387-91. |
| Narrow palate 11 pairs of ribs Long fingers | ||
| |DEL||5 | ||
| Chromosome Aberrations Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 5 DNA Probes DNA, Satellite Females Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Male Multigene Family Phenotype Sequence Deletion Syndrome | ||
| 7 (60.5%) |
8839891 |
Characterization of a derivative chromosome 17 by fish-technique. Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS. Ann Genet. 1996;39(3):177-80. |
| Micrognathia Depressed nasal bridge Protruding tongue | ||
| Cerebellum Chromosome Aberrations Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 4 Face Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Monosomy Phenotype Trisomy | ||
| 8 (59.0%) |
9774859 |
Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects. Sergi C, Schulze BR, Hager HD, Beedgen B, Zilow E, Linderkamp O, Otto HF, Tariverdian G. Pathologica. 1998;90(3):285-93. |
| Micrognathia Prominent glabella | ||
| Chromosome Aberrations Females Fetal Distress Homo sapiens Infant, Newborn Pregnancy Respiratory Diaphragm Syndrome | ||
| 8 (59.0%) |
7684190 |
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Am J Med Genet. 1993;46(1):72-6. |
| Micrognathia Choanal stenosis | ||
| Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 4 Congenital Heart Defects DNA Probes Developmental Disabilities External Ear Fluorescent in Situ Hybridization Hernia, Inguinal Homo sapiens Infant Male Respiration Disorders | ||
| 10 (58.2%) |
7671938 |
Clinical manifestations of trisomy 4p syndrome. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS. Eur J Pediatr. 1995;154(6):425-31. |
| Retrognathia Pointed chin Arachnodactyly | ||
| Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 4 Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Syndrome Trisomy |
Total: 85
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000047 | Hypospadias | Very frequent (99-80%) |
| HP:0000153 | Abnormality of the mouth | Very frequent (99-80%) |
| HP:0000159 | Abnormal lip morphology | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000288 | Abnormality of the philtrum | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001558 | Decreased fetal movement | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002162 | Low posterior hairline | Very frequent (99-80%) |
| HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0009890 | High anterior hairline | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000077 | Abnormality of the kidney | Frequent (79-30%) |
| HP:0000204 | Cleft upper lip | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000765 | Abnormality of the thorax | Frequent (79-30%) |
| HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
| HP:0000902 | Rib fusion | Frequent (79-30%) |
| HP:0000925 | Abnormality of the vertebral column | Frequent (79-30%) |
| HP:0000960 | Sacral dimple | Frequent (79-30%) |
| HP:0001028 | Hemangioma | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001171 | Split hand | Frequent (79-30%) |
| HP:0001177 | Preaxial hand polydactyly | Frequent (79-30%) |
| HP:0001362 | Calvarial skull defect | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0001654 | Abnormal heart valve morphology | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002144 | Tethered cord | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Frequent (79-30%) |
| HP:0003468 | Abnormal vertebral morphology | Frequent (79-30%) |
| HP:0006655 | Rib segmentation abnormalities | Frequent (79-30%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Frequent (79-30%) |
| HP:0007385 | Aplasia cutis congenita of scalp | Frequent (79-30%) |
| HP:0008830 | Hypoplastic pubic rami | Frequent (79-30%) |
| HP:0009778 | Short thumb | Frequent (79-30%) |
| HP:0010109 | Short hallux | Frequent (79-30%) |
| HP:0000078 | Abnormality of the genital system | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000389 | Chronic otitis media | Occasional (29-5%) |
| HP:0000485 | Megalocornea | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000488 | Retinopathy | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000647 | Sclerocornea | Occasional (29-5%) |
| HP:0000939 | Osteoporosis | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001519 | Disproportionate tall stature | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002715 | Abnormality of the immune system | Occasional (29-5%) |
| HP:0003363 | Abdominal situs inversus | Occasional (29-5%) |
| HP:0005264 | Abnormality of the gallbladder | Occasional (29-5%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0100022 | Abnormality of movement | Occasional (29-5%) |
| HP:0100790 | Hernia | Occasional (29-5%) |
Total: 53
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 20 |
| HP:0000252 | Microcephaly | 9 |
| HP:0001510 | Growth delay | 6 |
| HP:0001249 | Intellectual disability | 5 |
| HP:0001511 | Intrauterine growth retardation | 4 |
| HP:0008897 | Postnatal growth retardation | 4 |
| HP:0004322 | Short stature | 3 |
| HP:0011968 | Feeding difficulties | 3 |
| HP:0025356 | Psychomotor retardation | 3 |
| HP:0000047 | Hypospadias | 2 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000501 | Glaucoma | 2 |
| HP:0001252 | Muscular hypotonia | 2 |
| HP:0002047 | Malignant hyperthermia | 2 |
| HP:0002057 | Prominent glabella | 2 |
| HP:0410030 | Cleft lip | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000307 | Pointed chin | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000414 | Bulbous nose | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0000733 | Stereotypy | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000891 | Cervical ribs | 1 |
| HP:0000960 | Sacral dimple | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001171 | Split hand | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002072 | Chorea | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0003026 | Short long bone | 1 |
| HP:0005211 | Midgut malrotation | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0007109 | Periventricular cysts | 1 |
| HP:0007973 | Retinal dysplasia | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100785 | Insomnia | 1 |
| HP:0100790 | Hernia | 1 |