Ablepharon macrostomia syndrome

An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.



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Narrow down the case reports



Total: 16 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
11
(4.0%)		 26600791
(4649710)
 A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.
Feinstein E, Traish AS, Aakalu V, Kassem IS.
Case Rep Ophthalmol. 2015;6(3):366-72.
Thin skin
11
(4.0%)		 22002929
 Ablepharon-Macrostomia syndrome--extension of the phenotype.
Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH.
Am J Med Genet A. 2011;155A(12):3060-2.
Ambiguous genitalia
Eye Abnormalities Facies Females Homo sapiens Infant, Newborn Macrostomia Phenotype
11
(4.0%)		 11807864
 Ablepharon-macrostomia syndrome.
Stevens CA, Sargent LA.
Am J Med Genet. 2002;107(1):30-7.
Redundant skin
rs1553565140
Adult Child Child, Preschool Females Follow-Up Studies Homo sapiens Infant Macrostomia Male Syndrome
11
(4.0%)		 11038439
 Ablepharon-macrostomia syndrome: first report of familial occurrence.
Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM.
Am J Med Genet. 2000;94(4):281-3.
Redundant skin
rs1553565140
Adult Child, Preschool Females Genes, Dominant Growth Disorders Hair Homo sapiens Infant Infant, Newborn Macrostomia Male Nuclear Family Pregnancy Syndrome
11
(4.0%)		 8746822
 Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome.
Cruz AA, Guimaraes FC, Obeid HN, Ferraz VE, Noce TR, Martinez FE.
Ophthalmic Plast Reconstr Surg. 1995;11(4):284-7.
Redundant skin
rs1553565140
Adult Eyelid Diseases Females Homo sapiens Infant, Newborn Macrostomia Male Surgical Flaps Syndrome
11
(4.0%)		 3068987
 Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?
Cesarino EJ, Pinheiro M, Freire-Maia N, Meira-Silva MC.
Am J Med Genet. 1988;31(2):299-304.
Hypertelorism
Differential Diagnosis Homo sapiens Hypertrichosis Infant, Newborn Macrostomia Male Psychomotor Disorders Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000561 Absent eyelashes Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)
HP:0002213 Fine hair Very frequent (99-80%)
HP:0002223 Absent eyebrow Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0011224 Ablepharon Very frequent (99-80%)
HP:0000055 Abnormality of female external genitalia Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000327 Hypoplasia of the maxilla Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0000963 Thin skin Frequent (79-30%)
HP:0001126 Cryptophthalmos Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0003187 Breast hypoplasia Frequent (79-30%)
HP:0006709 Aplasia/Hypoplasia of the nipples Frequent (79-30%)
HP:0007392 Excessive wrinkled skin Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000413 Atresia of the external auditory canal Occasional (29-5%)
HP:0001000 Abnormality of skin pigmentation Occasional (29-5%)
HP:0001510 Growth delay Occasional (29-5%)
HP:0001539 Omphalocele Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0010720 Abnormal hair pattern Occasional (29-5%)
HP:0200020 Corneal erosion Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0001582 Redundant skin 3
HP:0000062 Ambiguous genitalia 2
HP:0011224 Ablepharon 2
HP:0000154 Wide mouth 1
HP:0000316 Hypertelorism 1
HP:0000656 Ectropion 1
HP:0000963 Thin skin 1
HP:0002561 Absent nipple 1
HP:0002933 Ventral hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TWIST2 twist family bHLH transcription factor 2 117581