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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.
Abnormality of speech or vocalization
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
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
Pinato L, Ribeiro EM, Leite RFP, Lopes TF, Pessoa ALS, Guissoni Campos LM, Piffer GE, Souza ALDM, Giacheti CM
Sleep 2018 Mar 1;41(3) doi: 10.1093/sleep/zsy009. PMID: 29325155
Santos AO, Rossi NF, Tandel Mda C, Richieri-Costa A, Giacheti CM
Codas 2016 Jul-Aug;28(4):373-8. Epub 2016 Aug 4 doi: 10.1590/2317-1782/20162015179. PMID: 27509399
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

Diagnosis

Pinato L, Ribeiro EM, Leite RFP, Lopes TF, Pessoa ALS, Guissoni Campos LM, Piffer GE, Souza ALDM, Giacheti CM
Sleep 2018 Mar 1;41(3) doi: 10.1093/sleep/zsy009. PMID: 29325155
Lamônica DA, Ribeiro CD, Richieri-Costa A, Giacheti CM
Codas 2016 Nov-Dec;28(6):823-827. doi: 10.1590/2317-1782/20162015184. PMID: 28001274
Santos AO, Rossi NF, Tandel Mda C, Richieri-Costa A, Giacheti CM
Codas 2016 Jul-Aug;28(4):373-8. Epub 2016 Aug 4 doi: 10.1590/2317-1782/20162015179. PMID: 27509399
Cassab TV, Zanchetta S, Giacheti CM, Zorzetto NL, Richieri-Costa A
Braz J Otorhinolaryngol 2011 Nov-Dec;77(6):768-74. doi: 10.1590/S1808-86942011000600014. PMID: 22183284Free PMC Article
Rossi NF, Sampaio A, Gonçalves OF, Giacheti CM
Res Dev Disabil 2011 Nov-Dec;32(6):2957-62. Epub 2011 May 31 doi: 10.1016/j.ridd.2011.05.006. PMID: 21624815

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
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
Lamônica DA, Ribeiro CD, Richieri-Costa A, Giacheti CM
Codas 2016 Nov-Dec;28(6):823-827. doi: 10.1590/2317-1782/20162015184. PMID: 28001274
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

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