| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.0%) |
6390321 |
Hydrolethalus syndrome in consecutive African siblings. Adetoro OO, Komolafe F, Anjorin A. Pediatr Radiol. 1984;14(6):422-4. |
| Micrognathia Fractures of the long bones | ||
| Adult Females Fingers Homo sapiens Hydrocephalus Infant, Newborn Micrognathism Nigeria Polyhydramnios Pregnancy Syndrome Toes | ||
| 2 (57.8%) |
11152149 |
An Asian girl with a 'milder' form of the Hydrolethalus syndrome. Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A. Clin Dysmorphol. 2001;10(1):51-5. |
| Micrognathia | ||
| Asia Fatal Outcome Females Finland Homo sapiens Hydrocephalus Incidence Infant, Newborn Mandible Syndrome Thailand | ||
| 2 (57.8%) |
2266703 |
[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review]. Haverkamp F, Zerres K, Fahnenstich H, Kohler W, Kowalewski S. Klin Padiatr. 1990;202(6):387-90. |
| Micrognathia | ||
| Cleft Palate Homo sapiens Hydrocephalus Infant, Newborn Male Male Genital Organs Syndrome | ||
| 2 (57.8%) |
1923636 |
[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival]. Camera G, Carbone LD, Centa A, Zucchinetti P, Barbieri G, Garaventa M. Pathologica. 1991;83(1085):359-64. |
| Micrognathia | ||
| Adult Females Fetal Diseases Homo sapiens Hydrocephalus Micrognathism Pregnancy Ultrasonography Ventricular Septal Defects | ||
| 5 (55.8%) |
22029171 |
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. Belengeanu V, Viskari H, Tallila J, Lahtela J, Farcas S, Andreescu N, Stoian M, Bohiltea CL, Fryns JP. Genet Couns. 2011;22(3):293-304. |
| Macrocephaly Polydactyly Cleft lip | ||
| HYLS1 | ||
| Brain Cleft Palate Congenital Hand Deformities Congenital Heart Defects Craniofacial Abnormalities Cystic Kidney Diseases Fatal Outcome Homo sapiens Hydrocephalus Infant, Newborn Male Polydactyly Proteins Romania Syndrome | ||
| 5 (55.8%) |
8828988 |
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. Morava E, Adamovich K, Czeizel AE. Clin Genet. 1996;49(4):211-5. |
| Dandy-Walker malformation Polydactyly Cleft lip | ||
| Adult Congenital Foot Deformity Dandy-Walker Syndrome Face Females Head Homo sapiens Hungary Infant, Newborn Male Polydactyly Pregnancy Spina Bifida Ultrasonography | ||
| 7 (53.3%) |
26294165 |
[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report]. Alvarado Socarras JL, Laverde Amaya DC, Prada C, Garcia Carrillo J. Arch Argent Pediatr. 2015;113(5):e290-3. |
| Polydactyly Cleft lip | ||
| Chromosomes, Human, Pair 13 Cleft Palate Congenital Hand Deformities Fetal Macrosomia Holoprosencephaly Homo sapiens Infant, Newborn Male Polydactyly Trisomy | ||
| 8 (48.8%) |
15305343 |
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family. Chan BC, Shek TW, Lee CP. Prenat Diagn. 2004;24(8):587-90. |
| Syndactyly Encephalocele | ||
| Adult China Chorionic Villi Sampling Congenital Heart Defects Craniofacial Abnormalities Females Gestational Age Homo sapiens Polydactyly Pregnancy Syndactyly Syndrome Ultrasonography, Prenatal | ||
| 8 (48.8%) |
1785646 |
Familial holoprosencephaly, heart defects, and polydactyly. Hennekam RC, van Noort G, de la Fuente AA. Am J Med Genet. 1991;41(2):258-62. |
| Microcephaly Polydactyly | ||
| Congenital Heart Defects Females Fingers Genes, Recessive Holoprosencephaly Homo sapiens Infant, Newborn Kidney Male Syndrome | ||
| 10 (43.2%) |
26166481 |
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S. Am J Hum Genet. 2015;97(2):311-8. |
| Short ribs | ||
| CEP290 GLI3 SHH | ||
| rs762081862 rs797045119 | ||
| Base Sequence Cell Cycle Proteins Ciliary Motility Disorders Codon, Nonsense Congenital Hand Deformities Congenital Heart Defects Europe, Eastern Fatal Outcome Founder Effect Homo sapiens Hydrocephalus Likelihood Functions Molecular Sequence Data Phenotype Sequence Analysis, DNA Short Rib-Polydactyly Syndrome |
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000238 | Hydrocephalus | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0001331 | Absent septum pellucidum | Very frequent (99-80%) |
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0001622 | Premature birth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000176 | Submucous cleft hard palate | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0001601 | Laryngomalacia | Frequent (79-30%) |
| HP:0002086 | Abnormality of the respiratory system | Frequent (79-30%) |
| HP:0004408 | Abnormality of the sense of smell | Frequent (79-30%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Frequent (79-30%) |
| HP:0030690 | Gingival cleft | Frequent (79-30%) |
| HP:0100333 | Unilateral cleft lip | Frequent (79-30%) |
| HP:0100682 | Tracheal atresia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000528 | Anophthalmia | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002323 | Anencephaly | Occasional (29-5%) |
| HP:0002983 | Micromelia | Occasional (29-5%) |
| HP:0011027 | Abnormality of the fallopian tube | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0010442 | Polydactyly | 7 |
| HP:0000238 | Hydrocephalus | 3 |
| HP:0000347 | Micrognathia | 2 |
| HP:0000773 | Short ribs | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0011304 | Broad thumb | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |