Summitt syndrome

Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(15.4%)		 3322002
 Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.
Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA.
Am J Med Genet. 1987;28(2):311-24.
Syndactyly Umbilical hernia
rs121908171
Acrocephalosyndactylia Adult Females Homo sapiens Syndrome Terminology as Topic
2
(5.0%)		 1642806
 Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
Pierquin G, Seligmann R, Van Regemorter N.
Genet Couns. 1992;3(2):101-5.
Brachydactyly
Acrocephalosyndactylia Child Child, Preschool Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Obesity Syndrome
2
(5.0%)		 474616
 The Summitt syndrome: observations on a third case.
Sells CJ, Hanson JW, Hall JG.
Am J Med Genet. 1979;3(1):27-33.
Brachydactyly
ATP6V0A2
Child Congenital Foot Deformity Congenital Hand Deformities Craniosynostosis Homo sapiens Male Obesity Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001357 Plagiocephaly Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005487 Prominent metopic ridge Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0010044 Short 4th metacarpal Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID