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Cleft palate-large ears-small head syndrome

MedGen UID:
357895
Concept ID:
C1867023
Disease or Syndrome
Synonyms: Cleft palate large ears small head; CLEFT PALATE, MICROCEPHALY, LARGE EARS, AND SHORT STATURE; Say Barber Hobbs syndrome; Say syndrome
SNOMED CT: Cleft palate, large ears, small head syndrome (763130006); Say Barber Hobbs syndrome (763130006)
 
Monarch Initiative: MONDO:0008402
OMIM®: 181180
Orphanet: ORPHA2013

Definition

A rare genetic syndrome with characteristics of cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. [from SNOMEDCT_US]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft palate-large ears-small head syndrome

Recent clinical studies

Etiology

Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Diagnosis

Giacaman A, Corral-Magaña O, Saus Sarrias C, González-López G, Asensio Landa VJ, Martín-Santiago A
Pediatr Dermatol 2024 Mar-Apr;41(2):307-310. Epub 2023 Oct 10 doi: 10.1111/pde.15436. PMID: 37817291
Barreiro-González A, Barranco-González H, Aviñó-Martínez J, López Blanco E, Gutiérrez Ontalvilla P, Évole-Buselli M
Arch Soc Esp Oftalmol (Engl Ed) 2019 Apr;94(4):196-199. Epub 2018 Nov 16 doi: 10.1016/j.oftal.2018.09.009. PMID: 30455119
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
De Maria B, Mazzanti L, Roche N, Hennekam RC
Am J Med Genet A 2016 Aug;170(8):1989-2001. Epub 2016 May 19 doi: 10.1002/ajmg.a.37757. PMID: 27196381
Tenea D, Jacyk WK
Pediatr Dermatol 2006 Mar-Apr;23(2):183-4. doi: 10.1111/j.1525-1470.2006.00210.x. PMID: 16650233

Prognosis

Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Clinical prediction guides

Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
Am J Hum Genet 2015 Jul 2;97(1):99-110. Epub 2015 Jun 25 doi: 10.1016/j.ajhg.2015.05.017. PMID: 26119818Free PMC Article

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