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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
Cystic renal dysplasia
MedGen UID:
322533
•Concept ID:
C1834931
•
Congenital Abnormality
See: Feature record | Search on this feature
Tapered finger
MedGen UID:
98098
•Concept ID:
C0426886
•
Finding
The gradual reduction in girth of the finger from proximal to distal.
See: Feature record | Search on this feature
Short distal phalanx of finger
MedGen UID:
326590
•Concept ID:
C1839829
•
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
See: Feature record | Search on this feature
Ulnar deviation of the 3rd finger
MedGen UID:
767528
•Concept ID:
C3554614
•
Finding
Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Macrotia
MedGen UID:
488785
•Concept ID:
C0152421
•
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Proximal renal tubular acidosis
MedGen UID:
82804
•Concept ID:
C0268435
•
Disease or Syndrome
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
Abnormality of the skin
MedGen UID:
11449
•Concept ID:
C0037268
•
Congenital Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft palate-large ears-small head syndrome
Follow this link to review classifications for Cleft palate-large ears-small head syndrome in Orphanet.

Recent clinical studies

Etiology

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
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
Ablepharon-macrostomia syndrome.
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Diagnosis

Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
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
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report.
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
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
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
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
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
Oral and dental abnormalities in Barber-Say syndrome.
Martins F, Ortega KL, Hiraoka C, Ricardo P, Magalhães M
Am J Med Genet A 2010 Oct;152A(10):2569-73. doi: 10.1002/ajmg.a.32898. PMID: 20830793

Prognosis

Ablepharon-macrostomia syndrome.
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

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
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
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
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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