Ankyloblepharon filiforme adnatum-cleft palate syndrome(AFA)

MedGen UID:: 400148
•Concept ID:: C1862866
•: Congenital Abnormality; Disease or Syndrome

Synonyms:	Ankyloblepharon filiforme adnatum and cleft palate; Ankyloblepharon filiforme adnatum cleft palate; Ankyloblepharon filiforme congenitum; Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip
SNOMED CT:	Ankyloblepharon filiforme adnatum with cleft palate syndrome (783204009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007123
OMIM®:	106250
Orphanet:	ORPHA1072

Definition

A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. [from SNOMEDCT_US]

Clinical features

From HPO

Cleft upper lip

MedGen UID:: 40327
•Concept ID:: C0008924
•: Congenital Abnormality

A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

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Ankyloblepharon

MedGen UID:: 83282
•Concept ID:: C0339182
•: Anatomical Abnormality

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.

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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).

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Abnormality of head or neck

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAnkyloblepharon filiforme adnatum-cleft palate syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
        Ankyloblepharon filiforme adnatum-cleft palate syndrome

Recent clinical studies

Etiology

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I
BMC Med Genet 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. PMID: 29523099 Free PMC Article

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Diagnosis

A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.

Koubek M, Strakošová K, Timkovič J, Grečmalová D, Orlíková A, Burčková H, Wiedermannová H, Mašek P
Ophthalmic Genet 2018 Apr;39(2):251-254. Epub 2017 Nov 15 doi: 10.1080/13816810.2017.1401091. PMID: 29140732

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

Guo S, Chen R, Xu Y, Mu Y, Chen L
J Craniofac Surg 2017 Jun;28(4):e349-e351. doi: 10.1097/SCS.0000000000003600. PMID: 28230601

Congenital oral synechia and ankyloblepharon filiforme adnatum: Case report and literature review.

Lima LB, Barbosa de Paulo LF, Silva CJ, Mendes VC, Simamoto-Júnior PC, Durighetto AF
Int J Pediatr Otorhinolaryngol 2016 Nov;90:196-199. Epub 2016 Sep 20 doi: 10.1016/j.ijporl.2016.09.023. PMID: 27729131

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

Greene SL, Michels VV, Doyle JA
Am J Med Genet 1987 May;27(1):207-12. doi: 10.1002/ajmg.1320270123. PMID: 3605196

Hay-Wells syndrome.

Shwayder TA, Lane AT, Miller ME
Pediatr Dermatol 1986 Nov;3(5):399-402. doi: 10.1111/j.1525-1470.1986.tb00549.x. PMID: 3809025

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