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Ascher syndrome

MedGen UID:
137910
Concept ID:
C0339085
Disease or Syndrome
Synonyms: Ascher's syndrome; Blepharochalasis and double lip; Double upper lip, blepharochalasis and enlargement of the thyroid
SNOMED CT: Blepharochalasis and double lip (28599006); Ascher syndrome (28599006); Ascher's syndrome (28599006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007198
OMIM®: 109900
Orphanet: ORPHA1253

Definition

A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. [from ORDO]

Clinical features

From HPO
Blepharochalasis
MedGen UID:
14154
Concept ID:
C0005742
Disease or Syndrome
Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
Duplication of the upper lip
MedGen UID:
1386830
Concept ID:
C4477035
Congenital Abnormality
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAscher syndrome
Follow this link to review classifications for Ascher syndrome in Orphanet.

Recent clinical studies

Etiology

Atzeni M, Ceratola E, Zaccheddu E, Manca A, Saba L, Ribuffo D
Eur Rev Med Pharmacol Sci 2009 Jul-Aug;13(4):309-11. PMID: 19694346

Diagnosis

Uner DD, Izol BS
Niger J Clin Pract 2019 Jul;22(7):1029-1031. doi: 10.4103/njcp.njcp_661_18. PMID: 31293273
Chander R, Mal J, Jain A, Jaykar K
Pediatr Dermatol 2009 Sep-Oct;26(5):631-3. doi: 10.1111/j.1525-1470.2009.01006.x. PMID: 19840335
Kara IG, Kara CO
Otolaryngol Head Neck Surg 2001 Feb;124(2):236-7. doi: 10.1067/mhn.2001.110863. PMID: 11226966
Sanchez MR, Lee M, Moy JA, Ostreicher R
J Am Acad Dermatol 1993 Oct;29(4):650-1. doi: 10.1016/s0190-9622(08)81875-0. PMID: 8408805
Navas J, Rodríguez-Pichardo A, Camacho F
Pediatr Dermatol 1991 Jun;8(2):122-3. doi: 10.1111/j.1525-1470.1991.tb00300.x. PMID: 1681524

Prognosis

Atzeni M, Ceratola E, Zaccheddu E, Manca A, Saba L, Ribuffo D
Eur Rev Med Pharmacol Sci 2009 Jul-Aug;13(4):309-11. PMID: 19694346

Clinical prediction guides

Ozdede M, Dere KA
J Craniofac Surg 2020 Sep;31(6):e563-e565. doi: 10.1097/SCS.0000000000006528. PMID: 32472894
Uner DD, Izol BS
Niger J Clin Pract 2019 Jul;22(7):1029-1031. doi: 10.4103/njcp.njcp_661_18. PMID: 31293273
Hughes HE, McAlpine PJ, Cox DW, Philipps S
J Med Genet 1985 Apr;22(2):119-25. doi: 10.1136/jmg.22.2.119. PMID: 3989825Free PMC Article

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