| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.8%) |
16086394 |
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH. Am J Med Genet A. 2005;137(2):117-24. |
| Micrognathia Shallow orbits | ||
| Child Child, Preschool Craniofacial Abnormalities Face Failure to Thrive Fatal Outcome Females Homo sapiens Infant Intellectual Disability Male Osteochondrodysplasias Respiration Disorders Syndrome | ||
| 2 (57.8%) |
20303330 |
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. Mitsukawa N, Satoh K. J Plast Reconstr Aesthet Surg. 2010;63(8):e611-4. |
| Micrognathia | ||
| Bone Diseases, Developmental Child, Preschool Face Follow-Up Studies Homo sapiens Male Mandible Maxilla Osteogenesis, Distraction Osteotomy Syndrome X-Ray Computed Tomography | ||
| 3 (56.0%) |
19462115 |
[Anesthesia in a patient with Marshall-Smith syndrome: case report]. Mandim BL, Fonseca NM, Ruzi RA, Temer PC. Rev Bras Anestesiol. 2007;57(4):401-5. |
| Long neck Pectus excavatum Large hands | ||
| 4 (52.0%) |
26200704 |
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Martinez F, Marin-Reina P, Sanchis-Calvo A, Perez-Aytes A, Oltra S, Rosello M, Mayo S, Monfort S, Pantoja J, Orellana C. Pediatr Res. 2015;78(5):533-9. |
| Narrow face Arachnodactyly | ||
| rs1555707363 rs770170081 | ||
| Amino Acid Sequence Base Sequence Bone Diseases, Developmental Child Child, Preschool Craniofacial Abnormalities DNA Mutational Analysis Exons Fatal Outcome Females Genetic Association Studies Genetic Markers Genetic Predisposition to Disease Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation NFI Transcription Factors Phenotype Septo-Optic Dysplasia Young Adult | ||
| 5 (44.7%) |
25118028 |
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Eur J Hum Genet. 2015;23(5):610-5. |
| Macrocephaly Downslanted palpebral fissures | ||
| CACNA1A NFIX NSD1 | ||
| rs1555707363 rs770170081 | ||
| Child, Preschool Differential Diagnosis Facies Females Genetic Association Studies Homo sapiens Infant Male Mutation NFI Transcription Factors Phenotype Sequence Deletion Syndrome | ||
| 6 (40.1%) |
15624371 |
Long-term follow-up of Marshall-Smith syndrome: report of one case. Hou JW. Acta Paediatr Taiwan. 2004;45(4):232-5. |
| Glossoptosis Scoliosis | ||
| Atrial Septal Defects Bone Diseases, Developmental Bone and Bones Brain Cerebellum Child Craniofacial Abnormalities Face Follow-Up Studies Growth Disorders Homo sapiens Magnetic Resonance Imaging Male Syndrome | ||
| 7 (38.6%) |
20949508 |
Phenotype and natural history in Marshall-Smith syndrome. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pueljic S, Zenker M, Cormier-Daire V, Hennekam RC. Am J Med Genet A. 2010;152A(11):2714-26. |
| High forehead Kyphoscoliosis | ||
| Adult Bone Diseases, Developmental Child Child, Preschool Craniofacial Abnormalities Females Homo sapiens Infant Infant, Newborn Male Phenotype Septo-Optic Dysplasia Time Factors Young Adult | ||
| 8 (29.2%) |
20731866 (2933713) |
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. Salter M, Kalmat C, Kroll H, Kim D. J Orthop Surg Res. 2010;5:61. |
| Hip dysplasia | ||
| 9 (20.4%) |
21739579 |
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. Passalacqua C, Melo C, Martin LM, Rojas F, Sanz P, Taucher SC, Aranibar L. Am J Med Genet A. 2011;155A(8):2015-7. |
| Failure to thrive Accelerated skeletal maturation | ||
| Abdomen Back Bone Diseases, Developmental Chest Craniofacial Abnormalities Developmental Disabilities Females Homo sapiens Hyperpigmentation Infant Septo-Optic Dysplasia Skin | ||
| 9 (20.4%) |
13677277 |
[A case of Marshall-Smith syndrome]. Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. Masui. 2003;52(8):860-2. |
| Failure to thrive Accelerated skeletal maturation | ||
| Bone Diseases, Developmental Child, Preschool Face General Anesthesia Growth Disorders Homo sapiens Intubation, Intratracheal Male Psychomotor Disorders Syndrome Tenosynovitis |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000963 | Thin skin | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0003100 | Slender long bone | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0002230 | Generalized hirsutism | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002659 | Increased susceptibility to fractures | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004349 | Reduced bone mineral density | Frequent (79-30%) |
| HP:0010808 | Protruding tongue | Frequent (79-30%) |
| HP:0000212 | Gingival overgrowth | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001508 | Failure to thrive | 8 |
| HP:0005616 | Accelerated skeletal maturation | 6 |
| HP:0001548 | Overgrowth | 3 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000472 | Long neck | 1 |
| HP:0000586 | Shallow orbits | 1 |
| HP:0000592 | Blue sclerae | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000767 | Pectus excavatum | 1 |
| HP:0001176 | Large hands | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002573 | Hematochezia | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0011220 | Prominent forehead | 1 |