Ascher syndrome

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.



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Narrow down the case reports



Total: 7 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(56.5%)		 14699621
 A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.
Parmar RC, Muranjan MN.
Am J Med Genet A. 2004;124A(2):200-1.
Broad nasal tip Blepharophimosis Finger clinodactyly
Adult Blepharophimosis Blepharoptosis Fingers Homo sapiens Male Syndrome
2
(39.8%)		 567995
 [Blepharoachalasis (Fuchs) and the Laffer-Ascher syndrome].
Muhlendyck H, Hundeiker M.
Hautarzt. 1978;29(9):474-7.
Blepharophimosis Hernia
Adult Cutis Laxa Differential Diagnosis Eyelid Diseases Females Goiter Homo sapiens Male Phimosis Syndrome
3
(30.8%)		 26000088
 Ascher syndrome: report of a case with early manifestations.
Molina S, Medard P, Galdeano M.
Craniomaxillofac Trauma Reconstr. 2015;8(2):150-2.
Edema Blepharochalasis
3
(30.8%)		 23172481
 Management of an unusual presentation of Ascher syndrome.
de Figueredo AA, de Pochat VD, Barreto TF, Mendes RS, Alonso N, Meneses JV.
J Craniofac Surg. 2012;23(6):e570-1.
Goiter Blepharochalasis
Craniofacial Abnormalities Differential Diagnosis Homo sapiens Male Young Adult
3
(30.8%)		 21713204
(3111109)
 Ascher syndrome: Review of literature and case report.
Ramesh BA.
Indian J Plast Surg. 2011;44(1):147-9.
Blepharochalasis
3
(30.8%)		 19694346
 Surgical correction and MR imaging of double lip in Ascher syndrome: record of a case and a review of the literature.
Atzeni M, Ceratola E, Zaccheddu E, Manca A, Saba L, Ribuffo D.
Eur Rev Med Pharmacol Sci. 2009;13(4):309-11.
Blepharochalasis
Adult Differential Diagnosis Eyelid Diseases Follow-Up Studies Homo sapiens Magnetic Resonance Imaging Male Reconstructive Surgical Procedures Syndrome
7
(4.0%)		 3989825
 An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
Hughes HE, McAlpine PJ, Cox DW, Philipps S.
J Med Genet. 1985;22(2):119-25.
Neuroma
Acromegaly Adult Child Child, Preschool Facial Expression Females Genes, Dominant Homo sapiens Lod Score Male Middle Aged Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000177 Abnormality of upper lip Very frequent (99-80%)
HP:0000492 Abnormal eyelid morphology Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0012724 Upper eyelid edema Very frequent (99-80%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000821 Hypothyroidism Frequent (79-30%)
HP:0000853 Goiter Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000445 Wide nose Occasional (29-5%)
HP:0004097 Deviation of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0010749 Blepharochalasis 2
HP:0000853 Goiter 1
HP:0030430 Neuroma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID