Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by bands of tissue connecting the upper and lower eyelids, which can lead to visual deprivation and subsequent amblyopia if left untreated. We report a case of a one-month-old girl who presented with bilateral eyelid adhesions causing restricted eyelid opening. The patient was born at 39 weeks of gestation with no prenatal complications. Physical examination revealed tissue bands connecting the eyelids bilaterally, with more severe restriction on the left side. Comprehensive systemic evaluation ruled out associated syndromic conditions, confirming isolated AFA. Due to the risk of deprivation amblyopia during the critical period of visual development, surgical separation of the eyelid adhesions was performed under general anesthesia at three months of age using electrocautery. Histopathological examination confirmed keratinized stratified squamous epithelium. Postoperatively, significant hyperopia and anisometropia were noted, which showed a myopic shift at two-month follow-up. Both eyelids remained well separated with good fixation and tracking in both eyes. This case emphasizes the critical importance of early recognition and prompt surgical intervention in AFA to prevent visual developmental complications. Timely management is essential to avoid stimulus deprivation amblyopia and ensure optimal visual outcomes, particularly in bilateral or extensive cases where the risk of visual impairment is heightened.

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by fine bands of tissue connecting the upper and lower eyelids, potentially obstructing vision if left untreated. We report a case of a preterm male neonate born at 33 weeks and 4 days of gestation via emergency cesarean section due to maternal preeclampsia. On examination, the infant had bilateral eyelid fusion consistent with AFA, confirmed by ophthalmologic evaluation. Surgical division of the adhesions was performed under general anesthesia with no complications. Postoperative recovery was uneventful, and follow-up confirmed clear corneas and normal ocular structures. This case highlights the importance of early recognition and prompt surgical management of AFA to prevent visual deprivation, particularly in preterm infants. It also underscores the need to assess for possible syndromic associations, although this case appeared isolated. Awareness of AFA among neonatologists and ophthalmologists can support timely diagnosis and intervention.

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.

Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate. We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities. Whole-exome sequencing (WES) identified a novel heterozygous variant, c.3G>T, in TP63 affecting the translation initiation codon (p.1Met?). Sanger sequencing confirmed dominant inheritance of this unique variant in all six affected family members. In summary, our findings indicate that heterozygous variants in TP63 affecting the first translation initiation codon result in a novel phenotype dominated by a cleft tongue, expanding the complex genotypic and phenotypic spectrum of TP63-associated disorders. The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. The diagnosis of a TP63-related disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in TP63 identified by molecular genetic testing. Treatment of manifestations: A multidisciplinary team of specialists in clinical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, nutrition/gastroenterology, and psychology is recommended. Skin erosions are treated with gentle wound care and periodic, dilute bleach soaks to prevent secondary infection, and infants with severe skin erosions are monitored and treated aggressively for dehydration, electrolyte imbalances, malnutrition, and infection. Wigs can be used for sparse hair and alopecia; dentures may be considered in early childhood and dental implants in the teens or early adulthood. Cleft lip/palate is managed per routine protocols; limb malformations are treated with occupational therapy and surgery as needed to optimize function. Surveillance: Regular attention to dental needs and possible hearing loss. The TP63-related disorders are inherited in an autosomal dominant manner. Approximately 30% of individuals diagnosed with a TP63-related disorder have an affected parent. The proportion of individuals with a TP63-related disorder caused by a de novo TP63 pathogenic variant is approximately 70%. If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to the sibs is 50%. Once the TP63 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Ankyloblephron filiform adnatum (AFA) is a rare benign congenital anomaly that can arise either in isolation or associated with a syndrome. It should be treated as early as possible due to its ambylogenic potential. We report a case of a successfully managed newborn that had sporadic AFA detected at birth. Our case is unique in the sense that sporadic AFA with Atrial septal defect has not been reported in the literature.