| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 6 (63.5%) |
6297028 |
[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?]. Kubryk N, Borde M. Sem Hop. 1982;58(41):2405-7. |
| Micrognathia Blepharophimosis | ||
| Face Fingers Homo sapiens Infant, Newborn Male Microcephaly Muscle Hypertonia Syndrome | ||
| 12 (58.9%) |
12673658 |
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Am J Med Genet A. 2003;118A(3):267-73. |
| Microcephaly Narrow nose Blepharophimosis Arachnodactyly | ||
| Blepharophimosis Bone and Bones Brain Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Facies Homo sapiens Magnetic Resonance Imaging Male Marfan Syndrome Syndrome | ||
| 13 (57.3%) |
1227520 |
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Temtamy SA, Shoukry AS, Raafat M, Mihareb S. Birth Defects Orig Artic Ser. 1975;11(2):104-8. |
| Blepharophimosis Arachnodactyly Kyphoscoliosis | ||
| Child, Preschool Contracture Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Male Myopathy Phenotype Syndrome | ||
| 14 (56.5%) |
7677143 |
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis. Ben-Neriah Z, Yagel S, Ariel I. Am J Med Genet. 1995;57(3):417-9. |
| Blepharophimosis Arachnodactyly | ||
| Cystic Kidney Diseases Females Fetal Growth Retardation Homo sapiens Pregnancy Syndrome Ultrasonography | ||
| 15 (53.2%) |
7543036 |
A case of Marden-Walker syndrome with Dandy-Walker malformation. Ozkinay F, Ozyurek AR, Bakiler AR, Narin N, Yuksel H, Ozkinay C, Parlar A, Arcasoy M. Clin Genet. 1995;47(4):221-3. |
| Arachnodactyly Dandy-Walker malformation | ||
| Brain Dandy-Walker Syndrome Developmental Disabilities Face Females Homo sapiens Infant Magnetic Resonance Imaging Syndrome | ||
| 16 (52.1%) |
1633641 |
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Clin Genet. 1992;41(1):22-4. |
| Epicanthus Clinodactyly | ||
| rs111515657 rs760791115 | ||
| Congenital Hand Deformities Face Females Fingers Homo sapiens Infant, Newborn Intellectual Disability Phenotype Syndrome | ||
| 17 (44.7%) |
11292226 |
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient. Orrico A, Galli L, Zappella M, Orsi A, Hayek G. J Child Neurol. 2001;16(2):150-3. |
| Blepharophimosis Scaphocephaly | ||
| Craniofacial Abnormalities Females Genes, Recessive Homo sapiens Infant, Newborn Intellectual Disability Limb Deformities, Congenital Phenotype Syndrome | ||
| 18 (43.1%) |
463823 |
Zollinger-Ellison syndrome with Marden-Walker syndrome. Association of two rare diseases in a 5-year-old girl. Abe K, Niikawa N, Sasaki H. Am J Dis Child. 1979;133(7):735-8. |
| Blepharophimosis Kyphoscoliosis | ||
| GAST | ||
| Child, Preschool Cleft Palate External Ear Females Growth Disorders Homo sapiens Intellectual Disability Syndrome | ||
| 19 (42.3%) |
8923937 |
Extending the spectrum of distal arthrogryposis. Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG. Am J Med Genet. 1996;65(4):286-90. |
| Blepharophimosis Congenital contracture | ||
| Adult Arthrogryposis Congenital Foot Deformity Congenital Hand Deformities Face Females Homo sapiens Male | ||
| 19 (42.3%) |
7551165 |
Marden-Walker syndrome in an adult. Kotzot D, Schinzel A. Clin Dysmorphol. 1995;4(3):260-5. |
| Blepharophimosis Congenital contracture | ||
| Adult Blepharophimosis Growth Disorders Homo sapiens Intellectual Disability Male Syndrome |
Total: 61
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000176 | Submucous cleft hard palate | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000298 | Mask-like facies | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0002974 | Radioulnar synostosis | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0003560 | Muscular dystrophy | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012745 | Short palpebral fissure | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000036 | Abnormality of the penis | Occasional (29-5%) |
| HP:0000039 | Epispadias | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000110 | Renal dysplasia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001331 | Absent septum pellucidum | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001651 | Dextrocardia | Occasional (29-5%) |
| HP:0001696 | Situs inversus totalis | Occasional (29-5%) |
| HP:0001840 | Metatarsus adductus | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004307 | Abnormal anatomic location of the heart | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010935 | Abnormality of the upper urinary tract | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000581 | Blepharophimosis | 8 |
| HP:0001166 | Arachnodactyly | 4 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000369 | Low-set ears | 3 |
| HP:0001508 | Failure to thrive | 3 |
| HP:0002751 | Kyphoscoliosis | 3 |
| HP:0000602 | Ophthalmoplegia | 2 |
| HP:0002803 | Congenital contracture | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0002021 | Pyloric stenosis | 1 |
| HP:0002375 | Hypokinesia | 1 |
| HP:0002486 | Myotonia | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002828 | Multiple joint contractures | 1 |