Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.



Input patient's signs and symptoms


Narrow down the case reports



Total: 69 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(71.3%)		 21548129
(3109510)
 Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr.
Am J Med Genet A. 2011;155A(6):1336-51.
Micrognathia Short nose Small hand Cleft lip
CENPL DNM3 PCNT
Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Face Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Microarray Analysis Phenotype Syndrome Young Adult
2
(60.5%)		 21070714
 Dental manifestations associated with Seckel syndrome type II: a case report.
Regen A, Nelson LP, Woo SB.
Pediatr Dent. 2010;32(5):445-50.
Micrognathia Hypodontia
Child, Preschool Craniofacial Abnormalities Dwarfism Facies Females Homo sapiens Micrognathism Mouth Rehabilitation Oral Ulcer Root Resorption Syndrome Tooth Abnormalities
2
(60.5%)		 9582723
 Esthetic overdenture for a patient with possible Seckel syndrome.
Nihill P, Lin LY, Salzmann LB, Stevens S.
Spec Care Dentist. 1996;16(5):210-3.
Micrognathia Microdontia
Adult Denture Design Denture, Overlay Dwarfism Esthetics, Dental Females Homo sapiens Jaw, Edentulous, Partially Mandible Syndrome
4
(59.2%)		 7201238
 Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.
Majewski F, Ranke M, Schinzel A.
Am J Med Genet. 1982;12(1):23-35.
Micrognathia Small forehead Proximal femoral epiphysiolysis
Child Child, Preschool Dwarfism Face Females Femur Fetal Growth Retardation Homo sapiens Intellectual Disability Male Microcephaly Pregnancy Syndrome
5
(59.0%)		 19338412
 Seckel syndrome and moyamoya.
Codd PJ, Scott RM, Smith ER.
J Neurosurg Pediatr. 2009;3(4):320-4.
Micrognathia Large beaked nose
Dwarfism Females Homo sapiens Microcephaly Moyamoya Disease Syndrome
5
(59.0%)		 10889046
 Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M.
Am J Hum Genet. 2000;67(2):498-503.
Micrognathia Prominent nose
Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 3 Craniofacial Abnormalities Females Genes, Recessive Genotype Homo sapiens Infant Infant, Newborn Lod Score Male Pakistan Syndrome
7
(57.8%)		 23263432
 Seckel syndrome: a report of a case.
Ramalingam K, Kaliyamurthy SD, Govindarajan M, Swathi S.
J Indian Soc Pedod Prev Dent. 2012;30(3):258-61.
Microcephaly Micrognathia
Cheilitis Child Dental Care for Chronically Ill Dental Care for Disabled Dwarfism Facies Females Gingivitis Homo sapiens Intellectual Disability Microcephaly Mouth Diseases Pulpitis Tooth Diseases Tooth Fractures
7
(57.8%)		 22353298
 Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.
Sarici D, Akin MA, Kara A, Doganay S, Kurtoglu S.
Pediatr Neurol. 2012;46(3):189-91.
Microcephaly Micrognathia
Arthrogryposis Dwarfism Face Facies Females Holoprosencephaly Homo sapiens Infant, Newborn Microcephaly
7
(57.8%)		 12744374
 Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature.
Hopkins TE, Haines SJ.
J Neurosurg. 2003;98(5):1113-5.
Microcephaly Micrognathia
Arnold Chiari Malformation Brain Stem Cerebellum Craniosynostosis Decompression, Surgical Disease Progression Fatal Outcome Follow-Up Studies Homo sapiens Image Processing, Computer-Assisted Imaging, Three-Dimensional Infant Infant, Newborn Magnetic Resonance Imaging Male Microcephaly Micrognathism Syndrome
7
(57.8%)		 9286460
 Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E.
Am J Med Genet. 1997;71(4):479-85.
Microcephaly Micrognathia
Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 2 Dwarfism Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Infant Male Microcephaly Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001852 Sandal gap Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0007495 Prematurely aged appearance Very frequent (99-80%)
HP:0011342 Mild global developmental delay Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000363 Abnormality of earlobe Frequent (79-30%)
HP:0000387 Absent earlobe Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0002209 Sparse scalp hair Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0009804 Reduced number of teeth Frequent (79-30%)
HP:0010579 Cone-shaped epiphysis Frequent (79-30%)
HP:0002650 Scoliosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 41

HPO ID Term # of case reports
HP:0000252 Microcephaly 23
HP:0000347 Micrognathia 7
HP:0004322 Short stature 5
HP:0008897 Postnatal growth retardation 4
HP:0000448 Prominent nose 2
HP:0000822 Hypertension 2
HP:0001510 Growth delay 2
HP:0002863 Myelodysplasia 2
HP:0003510 Severe short stature 2
HP:0003683 Large beaked nose 2
HP:0000085 Horseshoe kidney 1
HP:0000201 Pierre-Robin sequence 1
HP:0000278 Retrognathia 1
HP:0000350 Small forehead 1
HP:0000501 Glaucoma 1
HP:0000691 Microdontia 1
HP:0000787 Nephrolithiasis 1
HP:0001047 Atopic dermatitis 1
HP:0001249 Intellectual disability 1
HP:0001252 Muscular hypotonia 1
HP:0001279 Syncope 1
HP:0001511 Intrauterine growth retardation 1
HP:0001688 Sinus bradycardia 1
HP:0001876 Pancytopenia 1
HP:0002090 Pneumonia 1
HP:0002209 Sparse scalp hair 1
HP:0002637 Cerebral ischemia 1
HP:0002754 Osteomyelitis 1
HP:0002812 Coxa vara 1
HP:0006461 Proximal femoral epiphysiolysis 1
HP:0008633 Agonadism 1
HP:0009741 Nephrosclerosis 1
HP:0011451 Congenital microcephaly 1
HP:0012245 Sex reversal 1
HP:0020073 Hypopigmented macule 1
HP:0031972 Presyncope 1
HP:0040012 Chromosome breakage 1
HP:0100019 Cortical cataract 1
HP:0100790 Hernia 1
HP:0200034 Papule 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 9

Gene Symbol Gene Name Entrez Gene ID
ATR ATR serine/threonine kinase 545
CENPJ centromere protein J 55835
PCNT pericentrin 5116
CEP152 centrosomal protein 152 22995
RBBP8 RB binding protein 8, endonuclease 5932
ATRIP ATR interacting protein 84126
TRAIP TRAF interacting protein 10293
PLK4 polo like kinase 4 10733
CENPE centromere protein E 1062