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PubMed This is a summary of 20 peer-reviewed journal articles Updated
Pediatrics

Vision, Hearing, and Endocrine Health

At a Glance

Children with PHACE syndrome benefit from coordinated monitoring because problems affecting vision, hearing, growth, or thyroid health can be subtle. A normal newborn hearing screen does not rule out hearing loss, and chest-wall or skin findings should be clinically reviewed.

While the brain and heart are the primary focus of early PHACE syndrome care, the “E” (Eye) and “S” (Sternal) parts of the acronym—along with hearing and endocrine health—play a vital role in your child’s overall development. Because these systems can be affected in subtle ways, proactive screening is essential for early support [1][2].

Eye Health: Structural vs. Functional Issues

Eye concerns in PHACE syndrome generally fall into two categories:

  1. Hemangioma-Related (Functional): Most eye issues are caused by the birthmark itself. If a hemangioma is on the eyelid or near the eye socket (periorbital), it can physically block vision or press on the eye [3]. This may lead to ptosis (a drooping eyelid), strabismus (eyes that don’t line up), or amblyopia (“lazy eye”) [4][5].
  2. Developmental (Structural): In about 11% to 14% of cases, the eye itself or the optic nerve (the “cable” to the brain) formed differently in the womb [4][6]. These structural differences are almost always on the same side as the facial hemangioma [4].

Because of these risks, every child with suspected PHACE needs a complete exam by a pediatric ophthalmologist to ensure their vision develops correctly [3][7].

Why Hearing Screening Matters

Hearing loss has been reported in children with PHACE, occurring in roughly 40% of children in some small, selected studies [8]. A critical point for parents is that passing a newborn hearing screen does not mean your child’s hearing is perfect [8].

Standard newborn tests may miss the specific types of hearing loss seen in PHACE, which can be sensorineural (nerve-related), conductive (physical blockage), or a mix of both [8][9]. This is sometimes because the syndrome can involve a hemangioma inside the internal auditory canal (the “tunnel” for the hearing nerve) or differences in the bones of the ear [8][10]. Audiology testing is recommended when there is an abnormal screen, ear findings, speech delay, or parental concern [11].

Endocrine Health and Growth

The endocrine system—the body’s chemical messengers—can also be involved. Endocrine abnormalities, including pituitary or thyroid problems, have been reported but are not a core feature in every child with PHACE.

  • Thyroid Issues: Among those with endocrine involvement, some have thyroid dysgenesis, where the thyroid gland is missing or didn’t form completely [12][13].
  • Growth Hormone: If the pituitary gland is affected, a child might not produce enough growth hormone, leading to slower-than-expected growth [14][12].

Routine growth surveillance is appropriate, and endocrine testing should be tied to abnormal growth, symptoms, or specialist guidance rather than implied for every child [14][12].

The “S” in PHACE: Sternal and Skin Findings

The final letter of the acronym refers to findings on the chest or abdomen:

  • Sternal Cleft: This is a small gap or “notch” in the breastbone. A sternal cleft is a congenital chest-wall defect whose clinical significance depends on its size and anatomy and may require surgical evaluation [15][16].
  • Supraumbilical Raphe: This is a very thin, straight line or “scar-like” mark on the skin that runs from the chest down toward the belly button, typically a skin finding [15][17].

These findings should be examined by the treating team; they contribute to, but do not by themselves confirm, PHACE [1][18]. Although managing these different systems can feel complex, most children thrive with a coordinated team that watches for these specific findings [19][20].

Common questions in this guide

What eye problems can PHACE syndrome cause?
Eye problems may be functional, such as a drooping eyelid, misaligned eyes, or amblyopia caused by a hemangioma blocking or pressing on the eye. They may also be structural, involving how the eye or optic nerve formed. A complete exam by a pediatric ophthalmologist helps identify problems early.
Can my child have PHACE-related hearing loss after passing the newborn screen?
Yes. A newborn screen can miss some nerve-related, blockage-related, or mixed hearing loss associated with PHACE syndrome, so passing it does not guarantee normal hearing. Diagnostic audiology is especially important after an abnormal screen, ear findings, speech delay, or parental concern.
Does every child with PHACE need thyroid or hormone testing?
Not necessarily. Thyroid or pituitary problems have been reported but are not present in every child with PHACE syndrome. Growth should be followed routinely, while endocrine testing is usually guided by abnormal growth, symptoms, or a specialist's recommendation.
What is the difference between a sternal cleft and a supraumbilical raphe?
A sternal cleft is a gap or notch in the breastbone, while a supraumbilical raphe is a thin, straight, scar-like skin mark extending toward the belly button. A clinician should examine either finding because its significance depends on its appearance and anatomy. Neither finding confirms PHACE syndrome by itself.
When should my child have specialist screening for PHACE syndrome?
Children with suspected PHACE should have a complete pediatric eye examination. Hearing evaluation is recommended when there is an abnormal screen, an ear finding, speech delay, or concern about hearing, and growth should be monitored over time. The care team can decide whether MRI or endocrine evaluation needs follow-up based on the child's findings.
What signs of vision or hearing trouble should parents watch for?
Head tilting, squinting, a drooping eyelid, or eyes that do not line up can signal a vision problem. Inconsistent responses to sounds, favoring one ear, or speech delay may raise concern about hearing. Share these observations promptly with the child's pediatrician or specialists.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can you help me understand if my child's eye issues are 'structural' (part of how the eye formed) or 'functional' (caused by the hemangioma blocking vision)?
  2. 2.Since a newborn hearing screen doesn't always catch PHACE-related hearing loss, when should we schedule a formal diagnostic audiology exam?
  3. 3.Does my child's MRI show any findings in the internal auditory canal (IAC) or the pituitary gland that we should be aware of?
  4. 4.How often should we monitor my child's thyroid levels and growth velocity to screen for endocrine issues?
  5. 5.Is the mark on my child's chest a supraumbilical raphe or a sternal cleft, and does it need its own specialist evaluation?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (20)
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    Phace Syndrome in Children: Two Case Reports.

    Imrani K, El Haddad S, Allali N, Chat L

    Radiology case reports 2021; (16(12)):3882-3886 doi:10.1016/j.radcr.2021.09.023.

    PMID: 34703511
  2. 2

    PHACE Syndrome: A Rare Case.

    Taslicay CA, Dervisoglu E, Ciftci E, et al.

    Journal of pediatric genetics 2020; (9(1)):27-31 doi:10.1055/s-0039-1694705.

    PMID: 31976140
  3. 3

    Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

    Samuelov L, Kinori M, Mancini AJ, et al.

    The Journal of pediatrics 2019; (204()):214-218.e2 doi:10.1016/j.jpeds.2018.08.031.

    PMID: 30270159
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    Ophthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes.

    Soliman SE, Wan MJ, Pennal A, et al.

    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022; (26(3)):129.e1-129.e7 doi:10.1016/j.jaapos.2022.01.011.

    PMID: 35550864
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    Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

    Antonov NK, Spence-Shishido A, Marathe KS, et al.

    Pediatric dermatology 2015; (32(6)):e267-72 doi:10.1111/pde.12695.

    PMID: 26446288
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    Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

    Steiner JE, McCoy GN, Hess CP, et al.

    American journal of medical genetics. Part A 2018; (176(1)):48-55 doi:10.1002/ajmg.a.38523.

    PMID: 29171184
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    PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.

    Assari R, Ziaee V, Moghimi S, et al.

    Journal of current ophthalmology 2017; (29(2)):136-138 doi:10.1016/j.joco.2016.10.005.

    PMID: 28626825
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    Hearing loss in PHACE syndrome: clinical and radiologic findings.

    Mamlouk MD, Zimmerman B, Mathes EF, Rosbe KW

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(9)):1717-1724 doi:10.1007/s00381-018-3822-x.

    PMID: 29748705
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    Persistent stapedial artery in PHACE syndrome.

    Quatre R, Manipoud P, Schmerber S

    European annals of otorhinolaryngology, head and neck diseases 2019; (136(3)):215-217 doi:10.1016/j.anorl.2019.02.015.

    PMID: 30876851
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    Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes.

    Feygin T, Goldman-Yassen AE, Licht DJ, et al.

    AJNR. American journal of neuroradiology 2021; (42(8)):1520-1527 doi:10.3174/ajnr.A7204.

    PMID: 34244133
  11. 11

    Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.

    Lamotte M, Paris C, Euvrard E, et al.

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2023; (30(6)):366-371 doi:10.1016/j.arcped.2023.03.009.

    PMID: 37188563
  12. 12

    Endocrine manifestations of PHACE syndrome.

    Bongsebandhu-Phubhakdi C, Tempark T, Supornsilchai V

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(8)):797-802.

    PMID: 31323007
  13. 13

    PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    Mamlouk MD, Yu JP, Asch S, Mathes EF

    Clinical imaging 2016; (40(2)):237-40.

    PMID: 26995578
  14. 14

    A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions.

    Bongsebandhu-Phubhakdi C, Tempark T, Jakchairoongruang K, Supornsilpchai V

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(11)):1283-1286.

    PMID: 31473685
  15. 15

    PHACE(S) Syndrome With Absent Intracranial Internal Carotid Artery and Anomalous Circle of Willis.

    Winter PR, Itinteang T, Leadbitter P, et al.

    The Journal of craniofacial surgery 2015; (26(4)):e315-7 doi:10.1097/SCS.0000000000001701.

    PMID: 26080245
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    Sternal cleft and segmental facial hemangiomas in children with phaces syndrome: effectiveness and safety of conservative management and surgical correction.

    Benzar IM, Levytskyi AF, Pylypko VM

    Wiadomosci lekarskie (Warsaw, Poland : 1960) 2020; (73(6)):1267-1271.

    PMID: 32723967
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    PHACE (Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Cardiac Defects, and Eye Abnormalities) Syndrome in a Newborn With Bilateral Ocular Hemangiomas: The Importance of Early Recognition and Multidisciplinary Management.

    Overholt CM, Middleton ML, Lossius MN, Gonzalez JC

    Cureus 2026; (18(3)):e106213 doi:10.7759/cureus.106213.

    PMID: 42077723
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    PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.

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    PMID: 34036811
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    Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome.

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  20. 20

    Facing PHACES Syndrome; Anesthesiologist's Point of View.

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    PMID: 41112824

This page is for informational purposes only and does not constitute medical advice. Your child's pediatrician and relevant specialists should interpret screening results and recommend care.

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