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Giacheti syndrome

MedGen UID:
414543
Concept ID:
C2752043
Disease or Syndrome
Synonym: MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES
 
Monarch Initiative: MONDO:0013037
OMIM®: 612917

Clinical features

From HPO
Long foot
MedGen UID:
154365
Concept ID:
C0576225
Finding
Increased back to front length of the foot.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Abnormal speech pattern
MedGen UID:
1853271
Concept ID:
C3687424
Finding
An abnormality in the sound (volume) or cadence (rate) of speech.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Recent clinical studies

Etiology

da Silva NC, Pinato L, Ribeiro EM, Giacheti CM
Early Hum Dev 2023 Sep;184:105842. Epub 2023 Aug 9 doi: 10.1016/j.earlhumdev.2023.105842. PMID: 37595539
Garayzábal E, Hidalgo I, Miranda de Souza ALD, da Silva NC, Giacheti CM, Pinato L
Res Dev Disabil 2022 Sep;128:104286. Epub 2022 Jun 29 doi: 10.1016/j.ridd.2022.104286. PMID: 35779287
Fonteles CSR, Marques Ribeiro E, Sales Aragão Santos M, Ferreira Pequeno Leite R, Sales Assunção G, Monteiro AJ, Santos Pessoa AL, Giacheti CM, Cavalcante Kerbage S, Ribeiro TR, Pamplona de Góes Cavalcanti L
Cleft Palate Craniofac J 2018 Nov;55(10):1391-1398. Epub 2018 Apr 3 doi: 10.1177/1055665618766999. PMID: 29613837
Santoro SD, Giacheti CM, Rossi NF, Campos LM, Pinato L
Physiol Behav 2016 May 15;159:14-9. Epub 2016 Mar 11 doi: 10.1016/j.physbeh.2016.03.010. PMID: 26976740
Rossi NF, Garayzábal Heinze E, Giacheti CM, Gonçalves OF, Sampaio A
Res Dev Disabil 2012 May-Jun;33(3):819-24. Epub 2012 Jan 8 doi: 10.1016/j.ridd.2011.12.013. PMID: 22230237

Diagnosis

Leite RFP, Santos MSA, Ribeiro EM, Pessoa ALS, Lewis DR, Giacheti CM, Cavalcanti LPG
Epidemiol Serv Saude 2018 Nov 8;27(4):e2017553. doi: 10.5123/S1679-49742018000400002. PMID: 30427400
Sales AVMN, Giacheti CM, Cola PC, Silva RGD
Codas 2017 Oct 23;29(6):e20170005. doi: 10.1590/2317-1782/20172017005. PMID: 29069232
Rossi NF, Garayzábal Heinze E, Giacheti CM, Gonçalves OF, Sampaio A
Res Dev Disabil 2012 May-Jun;33(3):819-24. Epub 2012 Jan 8 doi: 10.1016/j.ridd.2011.12.013. PMID: 22230237
Giacheti CM, Zanchetta S, Maranhe E, Cassab TV, Abramides DV, Souza DH, De-Vitto LP, Richieri-Costa A
Am J Med Genet A 2007 Dec 15;143A(24):3137-9. doi: 10.1002/ajmg.a.32024. PMID: 17907158
Spinelli M, Rocha AC, Giacheti CM, Richieri-Costa A
Am J Med Genet 1995 Feb 27;60(1):39-43. doi: 10.1002/ajmg.1320600108. PMID: 7485233

Prognosis

Rossi NF, Giacheti CM
J Intellect Disabil Res 2017 Jul;61(7):707-718. doi: 10.1111/jir.12388. PMID: 28612476

Clinical prediction guides

da Silva NC, Pinato L, Ribeiro EM, Giacheti CM
Early Hum Dev 2023 Sep;184:105842. Epub 2023 Aug 9 doi: 10.1016/j.earlhumdev.2023.105842. PMID: 37595539
Garayzábal E, Hidalgo I, Miranda de Souza ALD, da Silva NC, Giacheti CM, Pinato L
Res Dev Disabil 2022 Sep;128:104286. Epub 2022 Jun 29 doi: 10.1016/j.ridd.2022.104286. PMID: 35779287
Sales AVMN, Giacheti CM, Cola PC, Silva RGD
Codas 2017 Oct 23;29(6):e20170005. doi: 10.1590/2317-1782/20172017005. PMID: 29069232
Osório AAC, Rossi NF, Gonçalves ÓF, Sampaio A, Giacheti CM
Child Neuropsychol 2017 Aug;23(6):631-641. Epub 2016 May 25 doi: 10.1080/09297049.2016.1183607. PMID: 27224940
Rossi NF, Garayzábal Heinze E, Giacheti CM, Gonçalves OF, Sampaio A
Res Dev Disabil 2012 May-Jun;33(3):819-24. Epub 2012 Jan 8 doi: 10.1016/j.ridd.2011.12.013. PMID: 22230237

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